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
ATP5J	522	broad.mit.edu	37	21	27102074	27102074	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:27102074G>A	uc002ylv.3	-	1	755	c.56C>T	c.(55-57)tCt>tTt	p.S19F	ATP5J_uc002ylw.3_Missense_Mutation_p.S11F|ATP5J_uc002yls.3_Missense_Mutation_p.S11F|ATP5J_uc002ylt.3_Missense_Mutation_p.S11F|ATP5J_uc002ylu.3_Missense_Mutation_p.S11F	NM_001003701	NP_001676	P18859	ATP5J_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 (ATP5J), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	11					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						CCGAATGACAGAGGAGAACCT	0.393000														18			18		0	0	0.001882	0	0
MYO18B	84700	broad.mit.edu	37	22	26228894	26228894	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:26228894C>T	uc003abz.1	+	15	3240	c.2990C>T	c.(2989-2991)cCt>cTt	p.P997L	MYO18B_uc003aca.1_Missense_Mutation_p.P878L|MYO18B_uc010guy.1_Missense_Mutation_p.P878L|MYO18B_uc010guz.1_Missense_Mutation_p.P878L|MYO18B_uc011aka.1_Missense_Mutation_p.P151L|MYO18B_uc011akb.1_Missense_Mutation_p.P510L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	997	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGGTGTTCCTGTGCAGTTT	0.507000														32			32		0	0	0.005524	0	0
TLR7	51284	broad.mit.edu	37	X	12906412	12906412	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:12906412G>A	uc004cvc.3	+	2	2924	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	929	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity	p.L928I(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTTATGTCTCGAGGAAAGGGA	0.468000														7			77		0	0	0.003610	0	0
GPR61	83873	broad.mit.edu	37	1	110085662	110085663	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:110085662_110085663CC>TT	uc021orh.1	+	0	18_19	c.18_19CC>TT	c.(16-21)atcccc>atTTcc	p.P7S	GPR61_uc001dxy.2_Missense_Mutation_p.P7S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	7						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P7S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCTCACCCATCCCCCAGTCATC	0.649000														15			11		0	0	0.004672	0	0
ALPI	248	broad.mit.edu	37	2	233321866	233321866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:233321866C>T	uc002vst.4	+	4	559	c.482C>T	c.(481-483)tCa>tTa	p.S161L	ALPI_uc002vsu.4_Missense_Mutation_p.S72L	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	161					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TCAGGAAAGTCAGTAGGAGTG	0.627000														9			16		0	0	0.004990	0	0
MFSD7	84179	broad.mit.edu	37	4	679631	679631	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:679631G>A	uc003gay.3	-	3	635	c.578C>T	c.(577-579)cCg>cTg	p.P193L	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.P193L|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	193					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACCATTAACGGAATGTCCTC	0.587000														73			15		0	0	0.004007	0	0
SPAM1	6677	broad.mit.edu	37	7	123594331	123594331	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:123594331G>A	uc003vle.3	+	2	1146	c.707G>A	c.(706-708)gGa>gAa	p.G236E	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.G236E|SPAM1_uc022aks.1_Missense_Mutation_p.G236E|SPAM1_uc003vlf.4_Missense_Mutation_p.G236E|SPAM1_uc010lku.3_Missense_Mutation_p.G236E	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	236					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGTTACAATGGAAGTTGCTTC	0.368000														35			24		0	0	0.002780	0	0
TRANK1	9881	broad.mit.edu	37	3	36899148	36899148	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:36899148G>A	uc003cgj.3	-	11	2181	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	645					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCACCACATGGCACTGACTTG	0.602000														79			27		0	0	0.007291	0	0
DNAH10	196385	broad.mit.edu	37	12	124284800	124284801	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:124284800_124284801GG>AA	uc001uft.4	+	13	1998_1999	c.1973_1974GG>AA	c.(1972-1974)agg>aAA	p.R658K	DNAH10_uc010tav.1_Missense_Mutation_p.R200K|DNAH10_uc010taw.1_Missense_Mutation_p.R143K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	658	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTTTAGAAAGGGGAGCTGTTT	0.475000														39			10		0	0	0.004672	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902884	24902884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:24902884C>T	uc003sxf.3	-	8	1210	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Intron|OSBPL3_uc003sxg.3_Missense_Mutation_p.E269K|OSBPL3_uc003sxh.3_Intron|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.E34K|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	269					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GATCTTTTTTCCTTTTTGGGA	0.448000														19			16		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208798	140208798	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140208798G>A	uc003lho.2	+	0	1149	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	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_uc003lhn.2_Silent_p.V374V|PCDHAC2_uc011dab.2_Silent_p.V374V	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATTAGCGTGAACGACCTCG	0.498000														111			81		0	0	0.003610	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423517	33423517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:33423517G>A	uc003oeq.3	+	1	908	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	ZBTB9_uc021ywp.1_Missense_Mutation_p.E214K	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E213Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ggtggaagaagaagaggagga	0.552000														123			21		0	0	0.001523	0	0
C12orf63	374467	broad.mit.edu	37	12	97073495	97073495	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:97073495G>A	uc021rcc.1	+	6	1034	c.956G>A	c.(955-957)aGa>aAa	p.R319K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	319										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CGACACAGCAGAAAGTTGCTT	0.453000														94			34		0	0	0.005524	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117966	117966	+	RNA	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrGL000205.1:117966G>A	uc002kgk.4	+	0		c.1344G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCCCGTGGTGGCCTGGTGGAC	0.522000														98			6		0	0	0.003080	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386068	56386068	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:56386068G>A	uc002ivx.4	-	21	5436	c.4565C>T	c.(4564-4566)cCt>cTt	p.P1522L	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.P1462L|BZRAP1_uc010wnt.2_Missense_Mutation_p.P1522L	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1522						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)					CCCATCTCCAGGGTAGCAGGA	0.627000														15			33		0	0	0.002096	0	0
TTC8	123016	broad.mit.edu	37	14	89307837	89307837	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:89307837C>T	uc010ath.3	+	4	662	c.528C>T	c.(526-528)tcC>tcT	p.S176S	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Silent_p.S186S|TTC8_uc001xxj.3_Silent_p.S176S|TTC8_uc001xxk.3_Intron|TTC8_uc001xxl.3_Intron|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	186					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAAAGTATTCCCAGAAACCTA	0.308000														43			21		0	0	0.002299	0	0
THBS3	7059	broad.mit.edu	37	1	155174669	155174669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:155174669C>T	uc001fix.3	-	3	728	c.623G>A	c.(622-624)gGg>gAg	p.G208E	THBS3_uc021pat.1_5'Flank|THBS3_uc010pfu.2_Intron|THBS3_uc009wqi.3_Missense_Mutation_p.G208E|THBS3_uc001fiy.3_Intron|THBS3_uc010pfv.2_Intron|THBS3_uc001fja.2_Non-coding_Transcript|THBS3_uc009wqj.1_Missense_Mutation_p.G170E	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	208					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGACTCGTCCCCTTGGAATGG	0.537000														161			48		0	0	0.003610	0	0
ZIM3	114026	broad.mit.edu	37	19	57646553	57646553	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57646553G>A	uc002qnz.1	-	4	1538	c.1152C>T	c.(1150-1152)atC>atT	p.I384I		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K383Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCCAGTATGGATTTTTTTAT	0.388000														96			41		0	0	0.006999	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850798	13850798	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:13850798C>T	uc010gcf.3	-	12	1238	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	SEL1L2_uc002woq.4_Missense_Mutation_p.G247R|SEL1L2_uc010zrl.2_Missense_Mutation_p.G386R|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.	386						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						AGGGGAACTCCTTTTCCATGA	0.333000														116			26		0	0	0.004656	0	0
TNN	63923	broad.mit.edu	37	1	175049410	175049410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:175049410G>A	uc001gkl.1	+	3	1009	c.896G>A	c.(895-897)gGg>gAg	p.G299E	TNN_uc010pmx.1_Missense_Mutation_p.G299E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	299	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TACCCCCTGGGGAAGGAGCTC	0.577000														74			16		0	0	0.006122	0	0
CIB4	130106	broad.mit.edu	37	2	26806696	26806696	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:26806696A>C	uc002rhm.3	-	4	428	c.399T>G	c.(397-399)gaT>gaG	p.D133E		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	133							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACATGTCATCACTGTTCA	0.557000														66			18		0	0	0.007413	0	0
BAI2	576	broad.mit.edu	37	1	32204489	32204490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:32204489_32204490GG>AA	uc001btn.3	-	15	2898_2899	c.2544_2545CC>TT	c.(2542-2547)ccccct>ccTTct	p.P849S	BAI2_uc010ogn.2_5'Flank|BAI2_uc010ogo.2_Missense_Mutation_p.P491S|BAI2_uc010ogp.2_Missense_Mutation_p.P782S|BAI2_uc010ogq.2_Missense_Mutation_p.P849S|BAI2_uc001bto.3_Missense_Mutation_p.P849S|BAI2_uc001btp.1_5'Flank|BAI2_uc001btq.1_Missense_Mutation_p.P782S	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	849					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGCTGGGTAGGGGGGCGCACAG	0.634000														112			22		0	0	0.004672	0	0
OR2B2	81697	broad.mit.edu	37	6	27879100	27879100	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:27879100T>A	uc011dkw.2	-	0	1075	c.998A>T	c.(997-999)aAc>aTc	p.N333I		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	333					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGCGGAGAAGTTAGTAAGGTA	0.318000														99			17		0	0	0.007413	0	0
CCNJL	79616	broad.mit.edu	37	5	159680613	159680613	+	Silent	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:159680613G>T	uc003lyb.1	-	6	1332	c.1080C>A	c.(1078-1080)tcC>tcA	p.S360S	CCNJL_uc011dee.1_Silent_p.S312S|CCNJL_uc003lyc.1_Non-coding_Transcript	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	360						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCTGCAAGGAGTCCCGAT	0.657000														61			19		8.04996e-18	1.20786e-17	0.001882	1	0
IL7R	3575	broad.mit.edu	37	5	35875626	35875626	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	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							15			43		0	0	0.002222	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744757	37744757	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:37744757G>A	uc004aag.1	+	15	2772	c.2728G>A	c.(2728-2730)Gag>Aag	p.E910K	FRMPD1_uc004aah.1_Missense_Mutation_p.E910K	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	910						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)		TCCTCTGAGGGAGACCAAGAG	0.582000														37			17		0	0	0.004007	0	0
ADAD2	161931	broad.mit.edu	37	16	84227702	84227702	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:84227702G>A	uc002fhq.2	+	1	623	c.509G>A	c.(508-510)aGa>aAa	p.R170K	ADAD2_uc002fhr.2_Intron|AK123582_uc002fhs.1_3'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	0	DRBM.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TTCCTCCTGAGAACAGGGTGg	0.522000														36			23		0	0	0.001882	0	0
GABBR1	2550	broad.mit.edu	37	6	29572283	29572283	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29572283C>T	uc003nmt.4	-	21	3036	c.2700G>A	c.(2698-2700)aaG>aaA	p.K900K	GABBR1_uc003nmp.4_Silent_p.K783K|GABBR1_uc003nms.4_Silent_p.K783K|GABBR1_uc003nmu.4_Silent_p.K838K|GABBR1_uc011dlr.2_Silent_p.K723K	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	900	Interaction with ATF4 (By similarity).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CAGCAATGATCTTTTCCAGTT	0.562000														196			52		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789035	140789035	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140789035C>T	uc003lkj.2	+	0	1266	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	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.I422I	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	424	Cadherin 4.				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)			ATGTCACCATCGTAGCCACTG	0.483000														45			35		0	0	0.004289	0	0
FAM179A	165186	broad.mit.edu	37	2	29221100	29221100	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:29221100C>T	uc010ezl.3	+	2	471	c.120C>T	c.(118-120)tcC>tcT	p.S40S	FAM179A_uc010ymm.2_Silent_p.S40S	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	40							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCATCAACTCCAGTCTGCCTC	0.652000														20			4		0	0	0.001168	0	0
CYBB	1536	broad.mit.edu	37	X	37668882	37668882	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:37668882G>A	uc004ddr.2	+	11	1585	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	CYBB_uc011mkf.1_Silent_p.K476K|CYBB_uc011mkg.1_Silent_p.K241K	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	508					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TGAAACAAAAGACTTTGTATG	0.423000														0			9		0	0	0.004482	0	0
OR2G2	81470	broad.mit.edu	37	1	247752336	247752336	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:247752336C>T	uc010pyy.2	+	0	675	c.675C>T	c.(673-675)gcC>gcT	p.A225A		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCTACATTGCCCACGCAGTGT	0.498000														94			16		0	0	0.004007	0	0
CRIPAK	285464	broad.mit.edu	37	4	1388354	1388354	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:1388354C>T	uc003gdf.2	+	0	3015	c.55C>T	c.(55-57)Cca>Tca	p.P19S		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	19					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TCACACGTGCCCATGTGGAGT	0.582000														343			19		0	0	0.001882	0	0
BAG6	7917	broad.mit.edu	37	6	31617103	31617103	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31617103G>T	uc003nvg.4	-	3	610	c.296C>A	c.(295-297)tCt>tAt	p.S99Y	BAG6_uc003nvf.4_Missense_Mutation_p.S99Y|BAG6_uc003nvi.4_Missense_Mutation_p.S99Y|BAG6_uc003nvh.4_Missense_Mutation_p.S99Y|BAG6_uc011dnw.2_Missense_Mutation_p.S99Y|BAG6_uc011dnx.2_Missense_Mutation_p.S99Y	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	99					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTCCCAGAAGATGCCCCAGA	0.577000														814			44		2.17126e-26	3.26684e-26	0.003610	1	0
OR10K2	391107	broad.mit.edu	37	1	158390485	158390485	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:158390485G>A	uc010pii.2	-	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I57M(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAGTACATGGGGATATGAAGG	0.493000														97			65		0	0	0.003610	0	0
ECEL1	9427	broad.mit.edu	37	2	233350918	233350918	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:233350918G>A	uc002vsv.2	-	1	651	c.446C>T	c.(445-447)aCc>aTc	p.T149I	ECEL1_uc010fya.1_Missense_Mutation_p.T149I|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	149					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCCGCGATGGTGCCATAGGT	0.726000														11			7		0	0	0.003080	0	0
TET1	80312	broad.mit.edu	37	10	70405173	70405173	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:70405173C>T	uc001jok.4	+	3	3192	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	896					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCCATAGAGGCCCTGACTCAA	0.448000														62			43		0	0	0.003610	0	0
MKL2	57496	broad.mit.edu	37	16	14345761	14345761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:14345761C>T	uc010uza.2	+	13	2601	c.2446C>T	c.(2446-2448)Cag>Tag	p.Q816*	MKL2_uc002dcg.3_Nonsense_Mutation_p.Q766*|MKL2_uc002dcj.3_Nonsense_Mutation_p.Q61*	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	805					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTCCATATCAGAGACATCC	0.403000														41			28		0	0	0.002096	0	0
GPR148	344561	broad.mit.edu	37	2	131487717	131487718	+	Missense_Mutation	DNP	CC	TT	TT	rs147782890		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:131487717_131487718CC>TT	uc002trv.2	+	0	1075_1076	c.993_994CC>TT	c.(991-996)gtccgg>gtTTgg	p.R332W		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	332						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)					TGGGCATGGTCCGGGGCCACCT	0.545000														14			7		0	0	0.004672	0	0
AK302694	0	broad.mit.edu	37	10	30998298	30998298	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:30998298G>A	uc010qdx.1	+	7	1386	c.844G>A	c.(844-846)Gag>Aag	p.E282K						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		CGCAGCCACGGAGTTCGTGTA	0.577000														19			18		0	0	0.001523	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656198	29656198	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:29656198G>A	uc003aeq.1	-	6	1384	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	338	UBA.					integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						TGCTCCGTAGGGAAGCCCATG	0.672000														7			4		0	0	0.000602	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687267	3687267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3687267G>A	uc002wja.3	-	1	136	c.136C>T	c.(136-138)Cct>Tct	p.P46S	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P46S|SIGLEC1_uc002wjc.3_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	46	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACGTCGGCAGGGAAGCTGAAG	0.657000														11			3		0	0	0.004672	0	0
IL7R	3575	broad.mit.edu	37	5	35876163	35876163	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:35876163G>A	uc003jjs.3	+	7	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	319					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)			AGCTAGAGATGAAGTGGAAGG	0.453000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							42			13		0	0	0.001368	0	0
FIG4	9896	broad.mit.edu	37	6	110113863	110113863	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:110113863T>C	uc003ptt.2	+	20	2670	c.2455T>C	c.(2455-2457)Tca>Cca	p.S819P	FIG4_uc011eau.1_Missense_Mutation_p.S542P	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	819					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)		CTCCATTTATTCAAGGTGAGA	0.299000														20			14		0	0	0.003163	0	0
RNF40	9810	broad.mit.edu	37	16	30777704	30777704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:30777704C>T	uc002dzq.3	+	9	1938	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	RNF40_uc010caa.3_Missense_Mutation_p.A373V|RNF40_uc010cab.3_Intron|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A373V|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	373					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCCCAGGTGGCCCTGCGGAGC	0.617000														38			28		0	0	0.003271	0	0
CFB	629	broad.mit.edu	37	6	31915562	31915562	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31915562C>T	uc003nyj.4	+	4	980	c.702C>T	c.(700-702)ttC>ttT	p.F234F	CFB_uc011dor.2_Silent_p.F736F|CFB_uc003nyi.2_Silent_p.F234F	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	234					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCGAAGCTTTCCTGTCTTCCC	0.552000														535			316		0	0	0.003610	0	0
HCG27	253018	broad.mit.edu	37	6	31170622	31170622	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31170622C>T	uc011dni.2	+	1		c.597C>T								Homo sapiens HLA complex group 27 (non-protein coding) (HCG27), non-coding RNA.																		CCTTCTGCCCCATCCCCAGGC	0.532000														196			64		0	0	0.003610	0	0
TAAR8	83551	broad.mit.edu	37	6	132874354	132874354	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:132874354G>A	uc011ecj.2	+	0	523	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	175						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CAATGATGATGGGCTGGAGGA	0.468000														94			61		0	0	0.003610	0	0
SPESP1	246777	broad.mit.edu	37	15	69223036	69223036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:69223036C>T	uc002arn.2	+	0	198	c.44C>T	c.(43-45)tCg>tTg	p.S15L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_5'UTR|NOX5_uc002arp.2_5'UTR|NOX5_uc010bid.2_Silent_p.F3F	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	15					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CTATGGCCTTCGTCTGTGCCG	0.642000														43			32		0	0	0.006230	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3687199	3687199	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3687199C>T	uc002wja.3	-	1	204	c.204G>A	c.(202-204)caG>caA	p.Q68Q	SIGLEC1_uc002wiz.4_Silent_p.Q68Q|SIGLEC1_uc002wjc.3_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	68	Ig-like V-type.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCTCACCACCTGCCGCTGGC	0.667000														18			4		0	0	0.000248	0	0
BBS1	582	broad.mit.edu	37	11	66298428	66298428	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:66298428C>T	uc001oii.1	+	14	1726	c.1648C>T	c.(1648-1650)Cct>Tct	p.P550S	BBS1_uc001oil.1_Missense_Mutation_p.P384S|BBS1_uc010rpg.1_Missense_Mutation_p.P416S|BBS1_uc001oij.1_Missense_Mutation_p.P513S|BBS1_uc001oik.1_Missense_Mutation_p.P437S|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.P181S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	513					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						AACAACCCGTCCTGTCCTGGG	0.567000									Bardet-Biedl syndrome					54			22		0	0	0.002299	0	0
PDZD2	23037	broad.mit.edu	37	5	31983414	31983414	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:31983414G>A	uc003jhl.3	+	2	1018	c.630G>A	c.(628-630)gcG>gcA	p.A210A	PDZD2_uc003jhm.3_Silent_p.A210A|PDZD2_uc011cnx.1_Silent_p.A36A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	210					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.A210V(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACCGAACTGCGAAAAAGGGGA	0.537000														63			20		0	0	0.002299	0	0
RRP1B	23076	broad.mit.edu	37	21	45094543	45094543	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:45094543C>T	uc002zdk.3	+	4	498	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	128					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)		TGAGGCAGTCCTTTGAAGTCT	0.343000														16			10		0	0	0.002450	0	0
GSTP1	2950	broad.mit.edu	37	11	67353922	67353922	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:67353922C>T	uc001omf.3	+	6	756	c.507C>T	c.(505-507)ggC>ggT	p.G169G		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	169	GST C-terminal.		G -> D (in dbSNP:rs41462048).		anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TAGCCCCTGGCTGCCTGGATG	0.647000														62			19		0	0	0.002299	0	0
LARGE	9215	broad.mit.edu	37	22	33673211	33673211	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:33673211G>A	uc003and.4	-	14	2487	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P	LARGE_uc011amd.2_Silent_p.P435P|LARGE_uc003ane.4_Silent_p.P636P|LARGE_uc010gwp.3_Silent_p.P584P|LARGE_uc011ame.2_Silent_p.P568P|LARGE_uc011amf.2_Silent_p.P587P	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	636					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CGAAGTTTGTGGGTGCGTGGC	0.582000														75			9		0	0	0.006214	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077309	57077309	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57077309C>T	uc001njr.3	-	4	3188	c.2876G>A	c.(2875-2877)aGg>aAg	p.R959K	TNKS1BP1_uc001njs.3_Missense_Mutation_p.R959K|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.R410K	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	959	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGTAGTCCCTTATCCAAGC	0.602000														114			98		0	0	0.003610	0	0
KCTD5	54442	broad.mit.edu	37	16	2749829	2749829	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2749829T>G	uc002crd.3	+	3	516	c.461T>G	c.(460-462)gTg>gGg	p.V154G		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	154					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CAGGTGCCTGTGAAGCATGTG	0.647000														26			26		0	0	0.001786	0	0
ZNF606	80095	broad.mit.edu	37	19	58489799	58489799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:58489799G>A	uc002qqw.3	-	6	2867	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	ZNF606_uc010yhp.2_Missense_Mutation_p.S660F	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAATAAGGGAAGAATTCTT	0.373000														85			51		0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55984928	55984928	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:55984928C>T	uc003has.3	-	2	503	c.201G>A	c.(199-201)caG>caA	p.Q67Q	KDR_uc003hat.1_Silent_p.Q67Q|KDR_uc011bzx.2_Silent_p.Q67Q	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	67	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGCCACTCTGATTATTGG	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				137			19		0	0	0.002780	0	0
ATF6B	1388	broad.mit.edu	37	6	32093947	32093947	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32093947G>A	uc003nzn.3	-	4	458	c.425C>T	c.(424-426)tCc>tTc	p.S142F	ATF6B_uc003nzo.3_Missense_Mutation_p.S139F|ATF6B_uc011dpg.2_Missense_Mutation_p.S76F|ATF6B_uc011dph.2_Missense_Mutation_p.S142F	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	142					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TTCAAATGAGGATGTTGGGTC	0.532000														762			133		0	0	0.003610	0	0
EXOC6B	23233	broad.mit.edu	37	2	72786608	72786608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:72786608G>A	uc010fep.3	-	7	1027	c.889C>T	c.(889-891)Cga>Tga	p.R297*	EXOC6B_uc002sij.2_Nonsense_Mutation_p.R297*	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	297					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TGTAGACATCGATAAACTGGA	0.368000														29			7		0	0	0.001984	0	0
MLL2	8085	broad.mit.edu	37	19	36214692	36214692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:36214692C>T	uc021usv.1	+	7	3118	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	781	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGAGGCCTCCCCTGGTCCTCC	0.687000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				10			3		0	0	0.004672	0	0
QTRT1	81890	broad.mit.edu	37	19	10823826	10823826	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:10823826C>T	uc002mpr.3	+	9	1117	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	DNM2_uc010dxk.2_Non-coding_Transcript	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	364					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			GCACCAGCATCGTGGAGAAGC	0.687000														29			19		0	0	0.008871	0	0
RFC1	5981	broad.mit.edu	37	4	39304682	39304682	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:39304682G>A	uc003gty.2	-	15	2343	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	RFC1_uc003gtx.2_Nonsense_Mutation_p.Q734*	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	735					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGAATTACCTGAATTCCTCCC	0.428000														143			27		0	0	0.007291	0	0
DGAT2	84649	broad.mit.edu	37	11	75509329	75509329	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:75509329C>G	uc001oxa.3	+	6	1126	c.867C>G	c.(865-867)atC>atG	p.I289M	DGAT2_uc001oxb.3_Missense_Mutation_p.I246M	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	289					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					AGCAGGTGATCTTCGAGGAGG	0.547000														145			40		0	0	0.002522	0	0
MTHFD1	4522	broad.mit.edu	37	14	64896942	64896942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:64896942G>A	uc001xhb.3	+	12	1692	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	MTHFD1_uc010aqe.2_Missense_Mutation_p.M471I|MTHFD1_uc010aqf.3_Missense_Mutation_p.M491I	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	435	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCATTCCTATGGAAGAGGTAA	0.507000											OREG0022729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			61		0	0	0.003610	0	0
ZNF643	65243	broad.mit.edu	37	1	40928260	40928260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:40928260C>T	uc001cfn.2	+	4	901	c.604C>T	c.(604-606)Caa>Taa	p.Q202*	ZNF643_uc001cfl.2_Nonsense_Mutation_p.Q100*|ZNF643_uc001cfm.2_Nonsense_Mutation_p.Q68*	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G201W(1)		large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(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;5.25e-18)			ACAAGAGAACCAAAGAATGGG	0.398000														118			52		0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72956740	72956740	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:72956740A>T	uc001sxa.3	+	8	1857	c.1827A>T	c.(1825-1827)gaA>gaT	p.E609D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	609					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAACAGCAGAAAATAGAATAA	0.328000														106			28		0	0	0.005443	0	0
CDCP1	64866	broad.mit.edu	37	3	45136996	45136996	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:45136996G>A	uc003com.3	-	4	1224	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	363						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGTTTGACGGGCCGTGGCT	0.498000														47			22		0	0	0.001882	0	0
SCN11A	11280	broad.mit.edu	37	3	38888977	38888977	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:38888977G>A	uc021wvy.1	-	25	4783	c.4584C>T	c.(4582-4584)atC>atT	p.I1528I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1528					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATATGTCATCGATTCCAGACT	0.443000														30			14		0	0	0.004990	0	0
MMP15	4324	broad.mit.edu	37	16	58078993	58078993	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:58078993C>T	uc002ena.3	+	9	2626	c.1653C>T	c.(1651-1653)tcC>tcT	p.S551S		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	551	Hemopexin-like 4.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						ACCCCAAGTCCATCCTGCGGG	0.657000														14			5		0	0	0.000602	0	0
SI	6476	broad.mit.edu	37	3	164785275	164785275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:164785275G>A	uc003fei.3	-	5	551	c.488C>T	c.(487-489)aCt>aTt	p.T163I		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	163	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTGGATCAGTAATCTGGAA	0.313000										HNSCC(35;0.089)				81			24		0	0	0.005443	0	0
ACTR5	79913	broad.mit.edu	37	20	37400291	37400291	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:37400291C>T	uc002xjd.2	+	8	1681	c.1656C>T	c.(1654-1656)atC>atT	p.I552I		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	552					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AAGTTTGGATCACCAGGAAAG	0.527000														84			11		0	0	0.008291	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409365	59409365	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:59409365C>T	uc003xtm.4	-	2	769	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	236					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCCAGTTTCTCCCGGGCATTG	0.498000									Neonatal Giant Cell Hepatitis					224			42		0	0	0.008740	0	0
NEBL	10529	broad.mit.edu	37	10	21106570	21106570	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:21106570C>T	uc001iqi.3	-	20	2504	c.2107G>A	c.(2107-2109)Gag>Aag	p.E703K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	703					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCTTCAGCTCTGGTGGATCA	0.378000														47			20		0	0	0.003330	0	0
DOK6	220164	broad.mit.edu	37	18	67406248	67406248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:67406248G>A	uc002lkl.3	+	5	844	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	216	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				ACAAGGGAAGGAGAAATGATC	0.443000														59			40		0	0	0.007835	0	0
MUC16	94025	broad.mit.edu	37	19	9049258	9049258	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9049258C>T	uc002mkp.3	-	4	32577	c.32373G>A	c.(32371-32373)cgG>cgA	p.R10791R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10793	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						AGGTCACCAACCGTGATACAG	0.493000														62			43		0	0	0.002522	0	0
UNC5C	8633	broad.mit.edu	37	4	96106277	96106278	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:96106277_96106278CC>TT	uc003hto.3	-	12	2559_2560	c.2206_2207GG>AA	c.(2206-2208)ggc>AAc	p.G736N	UNC5C_uc010ilc.2_Missense_Mutation_p.G755N	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	736					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GTGGGTGCTGCCTTTAAAATGA	0.470000														45			26		0	0	0.004672	0	0
TOMM70A	9868	broad.mit.edu	37	3	100100601	100100601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:100100601C>T	uc003dtw.3	-	4	1191	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	248					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R247H(1)|p.R247C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATCAGAGGTTCACGATTCTGA	0.373000														32			12		0	0	0.001368	0	0
KIAA0182	23199	broad.mit.edu	37	16	85694854	85694854	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:85694854C>T	uc002fix.3	+	8	1817	c.1743C>T	c.(1741-1743)ccC>ccT	p.P581P	KIAA0182_uc002fiw.3_Silent_p.P477P|KIAA0182_uc002fiy.3_Silent_p.P508P|KIAA0182_uc002fiz.3_5'Flank|KIAA0182_uc010cho.3_5'Flank	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	581	Pro-rich.						protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						ATGCTGCACCCACGGCCCTCT	0.657000														45			23		0	0	0.002780	0	0
OR2L13	284521	broad.mit.edu	37	1	248263371	248263371	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:248263371G>A	uc001ids.3	+	2	1031	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	OR2L13_uc021pmc.1_Missense_Mutation_p.G232R	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.G232E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTCAAAGGAGGGGAGAAAAAA	0.433000														79			26		0	0	0.004656	0	0
RUNX2	860	broad.mit.edu	37	6	45480082	45480082	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:45480082C>T	uc011dvx.2	+	6	1169	c.959C>T	c.(958-960)cCg>cTg	p.P320L	RUNX2_uc011dvy.2_Missense_Mutation_p.P320L|RUNX2_uc003oxt.3_Missense_Mutation_p.P306L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	320	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.T319T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TCTACCACCCCGCTGTCTTCC	0.587000														110			27		0	0	0.005443	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481569	27481569	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:27481569G>A	uc002dov.2	-	30	4714	c.4674C>T	c.(4672-4674)gcC>gcT	p.A1558A	GTF3C1_uc002dou.3_Silent_p.A1558A	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1558						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGTGAAAAGGCCACCATGT	0.537000														99			38		0	0	0.003755	0	0
BZRAP1	9256	broad.mit.edu	37	17	56388315	56388315	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:56388315G>A	uc002ivx.4	-	18	4212	c.3341C>T	c.(3340-3342)tCt>tTt	p.S1114F	BZRAP1_uc010dcs.3_Missense_Mutation_p.S1054F|BZRAP1_uc010wnt.2_Missense_Mutation_p.S1114F	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1114	Pro-rich.					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)					CTGGAGAGGAGAGCTGGGGTC	0.672000														13			15		0	0	0.004990	0	0
MRC2	9902	broad.mit.edu	37	17	60749032	60749032	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:60749032G>A	uc002jad.3	+	6	1542	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	380					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ATGTGAAGGTGGAGTGCGAGC	0.642000														36			18		0	0	0.006122	0	0
PFAS	5198	broad.mit.edu	37	17	8157260	8157260	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:8157260C>T	uc002gkr.3	+	1	146	c.5C>T	c.(4-6)tCc>tTc	p.S2F	PFAS_uc010vuv.2_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	2					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGAGATGTCCCCAGTCCTT	0.522000														10			8		0	0	0.003080	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161269	185161269	+	Silent	SNP	C	T	T	rs138574503		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:185161269C>T	uc010hyf.3	+	4	987	c.696C>T	c.(694-696)atC>atT	p.I232I	MAP3K13_uc011brt.2_Silent_p.I25I|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Silent_p.I88I|MAP3K13_uc003fpi.3_Silent_p.I232I|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	232	Protein kinase.			CII -> YLY (in Ref. 6; CAA80915).	JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			ATTGTATTATCATGGAATACT	0.408000														70			26		0	0	0.006320	0	0
DDR1	780	broad.mit.edu	37	6	30865183	30865183	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:30865183C>T	uc003nrv.3	+	13	2085	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	DDR1_uc010jse.3_Silent_p.I638I|DDR1_uc003nrq.3_Silent_p.I638I|DDR1_uc003nrr.3_Silent_p.I675I|DDR1_uc003nrs.3_Silent_p.I675I|DDR1_uc003nrt.3_Silent_p.I638I|DDR1_uc011dms.2_Silent_p.I656I|DDR1_uc003nru.3_Silent_p.I638I|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Silent_p.I529I|DDR1_uc003nrw.1_Silent_p.I410I	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	675	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGGTGAAGATCATGTCGAGGC	0.587000														95			10		0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884064	228884064	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:228884064A>G	uc002vpq.2	-	6	1553	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SPHKAP_uc002vpp.2_Silent_p.C502C|SPHKAP_uc010zlx.1_Silent_p.C502C	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	502						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)		CAGTGGCTGCACAAGCTAACG	0.527000														10			8		0	0	0.006214	0	0
DENND5A	23258	broad.mit.edu	37	11	9164310	9164310	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:9164310G>A	uc001mhl.3	-	20	3727	c.3470C>T	c.(3469-3471)tCg>tTg	p.S1157L	DENND5A_uc001mhk.3_Missense_Mutation_p.S500L|DENND5A_uc010rbw.2_Missense_Mutation_p.S1157L	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1157	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGCCGGGGCGATTTAAATCC	0.517000														59			54		0	0	0.003610	0	0
AF047486	0	broad.mit.edu	37	17	41020661	41020661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:41020661G>A	uc002ibx.3	+	1	289	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		GGGCCTTGCGGAAACGGTGCT	0.507000														14			21		0	0	0.001523	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20585984	20585984	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:20585984C>T	uc002wrz.3	-	14	2016	c.1873G>A	c.(1873-1875)Ggt>Agt	p.G625S	RALGAPA2_uc002wry.3_Missense_Mutation_p.G240S|RALGAPA2_uc010zsg.2_Missense_Mutation_p.G26S	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	625					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GACAGCACACCAAGAAAGTCA	0.478000														54			10		0	0	0.006214	0	0
ZC3H3	23144	broad.mit.edu	37	8	144557690	144557690	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:144557690G>A	uc003yyd.2	-	4	1810	c.1781C>T	c.(1780-1782)cCt>cTt	p.P594L		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	594					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)			CCGCCACCAAGGGGAGCCCGG	0.642000														25			9		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13716662	13716662	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:13716662G>A	uc003jfd.2	-	73	12885	c.12843C>T	c.(12841-12843)ttC>ttT	p.F4281F	DNAH5_uc003jfc.2_Silent_p.F449F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4281					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGTAAAAACTGAAATCTGGTC	0.358000									Kartagener syndrome					62			17		0	0	0.006122	0	0
GYS2	2998	broad.mit.edu	37	12	21699379	21699379	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:21699379G>A	uc001rfb.3	-	11	1703	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	483			S -> P (in GSD0).		glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACTGGTGGAGGATAGAAACTC	0.363000														15			12		0	0	0.000978	0	0
FCER1A	2205	broad.mit.edu	37	1	159273800	159273800	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159273800G>A	uc001ftq.3	+	3	256	c.159G>A	c.(157-159)ggG>ggA	p.G53G		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	53	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CATGTAATGGGAACAATTTCT	0.368000														65			21		0	0	0.002299	0	0
GLI2	2736	broad.mit.edu	37	2	121736031	121736031	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:121736031C>T	uc010flp.3	+	8	1420	c.1390C>T	c.(1390-1392)Cac>Tac	p.H464Y	GLI2_uc002tmq.1_Missense_Mutation_p.H136Y|GLI2_uc002tmr.1_Missense_Mutation_p.H119Y|GLI2_uc002tmt.4_Missense_Mutation_p.H136Y|GLI2_uc002tmu.4_Missense_Mutation_p.H119Y|GLI2_uc002tmw.1_Missense_Mutation_p.H447Y	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	464					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGAGCACATCCACGGGGAGAA	0.627000														73			46		0	0	0.003610	0	0
NBPF14	25832	broad.mit.edu	37	1	148344720	148344720	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:148344720G>A	uc001eqf.3	-	1	233	c.198C>T	c.(196-198)ctC>ctT	p.L66L	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc001erc.4_Intron|NBPF14_uc001erd.4_Silent_p.L66L|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'Flank|NBPF14_uc010pav.2_Silent_p.L66L|NBPF14_uc010paw.2_Intron	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	0						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TAAATTTTATGAGGTCTTTAC	0.537000														252			13		0	0	0.006122	0	0
PLXNA1	5361	broad.mit.edu	37	3	126736441	126736441	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:126736441C>T	uc003ejg.3	+	16	3450	c.3450C>T	c.(3448-3450)ccC>ccT	p.P1150P		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1150	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCTGACCCCGTACTGGAGC	0.642000														141			46		0	0	0.003610	0	0
ASCC3	10973	broad.mit.edu	37	6	101296463	101296463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:101296463G>A	uc003pqk.3	-	3	691	c.362C>T	c.(361-363)cCc>cTc	p.P121L	ASCC3_uc011eai.1_Missense_Mutation_p.P23L|ASCC3_uc003pql.3_Missense_Mutation_p.P121L|ASCC3_uc010kcv.3_Missense_Mutation_p.P121L	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGAAGGAAAGGGGCCAAACAT	0.408000														14			20		0	0	0.008871	0	0
SNTB2	6645	broad.mit.edu	37	16	69334793	69334793	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:69334793C>T	uc002ewu.3	+	6	1609	c.1589C>T	c.(1588-1590)tCg>tTg	p.S530L	SNTB2_uc021tkg.1_Non-coding_Transcript	NM_006750	NP_006741	Q13425	SNTB2_HUMAN	Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA.	530	Calmodulin-binding (By similarity).|SU.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ACGTTTTTATCGGCCAAAGTC	0.418000														50			22		0	0	0.001882	0	0
RYR1	6261	broad.mit.edu	37	19	38931463	38931463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38931463G>A	uc002oit.3	+	1	254	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	RYR1_uc002oiu.3_Missense_Mutation_p.G42S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	42					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)	CGAGGGCTTCGGCAACCGCCT	0.662000														13			7		0	0	0.001984	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602377	138602377	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:138602377G>A	uc011kql.2	-	1	2044	c.1995C>T	c.(1993-1995)ccC>ccT	p.P665P	KIAA1549_uc011kqj.2_Silent_p.P665P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	665	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTCAACCAAGGGAGAAAAAG	0.498000			O	BRAF	pilocytic astrocytoma									12			8		0	0	0.003080	0	0
HOXC8	3224	broad.mit.edu	37	12	54404894	54404894	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:54404894G>A	uc001ser.3	+	1	637	c.458G>A	c.(457-459)cGg>cAg	p.R153Q		NM_022658	NP_073149	P31273	HXC8_HUMAN	Homo sapiens homeobox C8 (HOXC8), mRNA.	153						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CGCAGTGGACGGCAAACTTAC	0.488000														46			16		0	0	0.004990	0	0
SCN1A	6323	broad.mit.edu	37	2	166893031	166893031	+	Missense_Mutation	SNP	G	A	A	rs121918625		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:166893031G>A	uc002udo.4	-	17	3183	c.2956C>T	c.(2956-2958)Ctc>Ttc	p.L986F	SCN1A_uc010fpk.3_Missense_Mutation_p.L958F|SCN1A_uc021vsb.1_Missense_Mutation_p.L975F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	986			L -> F (in SMEI; complete loss of function; dbSNP:rs121918625).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GCCAGAAAGAGATTCAGGACC	0.353000														13			14		0	0	0.001855	0	0
MACC1	346389	broad.mit.edu	37	7	20198181	20198181	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:20198181G>A	uc003sus.4	-	4	2112	c.1803C>T	c.(1801-1803)gtC>gtT	p.V601V	MACC1_uc010kug.3_Silent_p.V601V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	601	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TACCTCTGAGGACTCCTACAT	0.398000														126			39		0	0	0.007835	0	0
GPR179	440435	broad.mit.edu	37	17	36493589	36493589	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:36493589C>T	uc002hpz.3	-	2	939	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	306						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCCCTGACTCTCCAGGGGAA	0.572000														18			38		0	0	0.007835	0	0
ZNF221	7638	broad.mit.edu	37	19	44471126	44471126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:44471126C>T	uc002oxx.2	+	5	1800	c.1472C>T	c.(1471-1473)tCc>tTc	p.S491F	ZNF221_uc010ejb.1_Missense_Mutation_p.S491F|ZNF221_uc010xws.1_Missense_Mutation_p.S491F	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GGCTGGGCCTCCTGTCTTTTG	0.448000														27			21		0	0	0.001882	0	0
ZNF470	388566	broad.mit.edu	37	19	57088341	57088341	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57088341C>T	uc002qnl.4	+	5	1220	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GACAGTTTTTCATCTGAATAC	0.303000														37			16		0	0	0.003163	0	0
TTBK1	84630	broad.mit.edu	37	6	43225664	43225664	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43225664C>T	uc003ouq.1	+	9	1255	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	326						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CACCTCTACCCCGCCCCAGCA	0.617000														80			9		0	0	0.001855	0	0
CCDC171	203238	broad.mit.edu	37	9	15744360	15744360	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:15744360C>T	uc011lmu.2	+	15	2274	c.2163C>T	c.(2161-2163)ttC>ttT	p.F721F	CCDC171_uc010mih.1_Silent_p.F721F|CCDC171_uc003zmd.3_Silent_p.F713F|CCDC171_uc003zme.3_Silent_p.F628F|CCDC171_uc003zmf.1_Silent_p.F21F	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	713																	ATTCGCACTTCAAAAAACTGT	0.393000														72			34		0	0	0.002445	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598265	81598265	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:81598265G>A	uc003uhr.1	-	28	2589	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATGCCCGATTCATAGGC	0.279000														53			43		0	0	0.003610	0	0
SCAF8	22828	broad.mit.edu	37	6	155114102	155114102	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:155114102A>C	uc003qqa.3	+	5	699	c.467A>C	c.(466-468)aAt>aCt	p.N156T	SCAF8_uc011efj.2_Missense_Mutation_p.N222T|SCAF8_uc011efk.2_Missense_Mutation_p.N201T|SCAF8_uc003qpz.3_Missense_Mutation_p.N156T|SCAF8_uc010kji.3_Missense_Mutation_p.N177T	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	156					RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						GCTATGAGCAATACTCCAGGT	0.398000														23			18		0	0	0.001523	0	0
HEATR8	374977	broad.mit.edu	37	1	55139793	55139793	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:55139793C>T	uc010ooe.1	+	9	2229	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.I203I|HEATR8_uc010ood.1_Silent_p.I153I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.I635I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	635						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGGCATCATCATCCTCTACA	0.512000														55			26		0	0	0.006320	0	0
VIPR2	7434	broad.mit.edu	37	7	158827272	158827272	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:158827272G>A	uc003woh.3	-	9	1065	c.879_splice	c.e9+1	p.I293_splice	VIPR2_uc010lqx.3_Splice_Site|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	293					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GACTACTTACGATGATGGAAA	0.458000														35			27		0	0	0.001786	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074685	143074685	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:143074685G>A	uc003qjd.3	-	9	7643	c.6900C>T	c.(6898-6900)tcC>tcT	p.S2300S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCCGAGGAGAGGAGGGAGTGC	0.517000														40			23		0	0	0.004656	0	0
FNDC7	163479	broad.mit.edu	37	1	109270433	109270433	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:109270433C>T	uc001dvx.3	+	6	1115	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	FNDC7_uc010ova.2_Missense_Mutation_p.P139L	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	373						extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCAGCTCCCTGTTGTCCT	0.552000														86			30		0	0	0.002445	0	0
SLIT2	9353	broad.mit.edu	37	4	20255468	20255468	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:20255468C>T	uc003gpr.1	+	0	234	c.30C>T	c.(28-30)tcC>tcT	p.S10S	SLIT2_uc003gps.1_Silent_p.S10S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	10					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						AGATGCTGTCCCTGTCGCTGG	0.672000														111			25		0	0	0.003954	0	0
YEATS4	8089	broad.mit.edu	37	12	69756643	69756643	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:69756643C>T	uc001sux.3	+	1	348	c.127C>T	c.(127-129)Cac>Tac	p.H43Y		NM_006530	NP_006521	O95619	YETS4_HUMAN	Homo sapiens YEATS domain containing 4 (YEATS4), mRNA.	43	YEATS.				histone H2A acetylation|histone H4 acetylation|mitosis|positive regulation of transcription, DNA-dependent|regulation of growth	NuA4 histone acetyltransferase complex|nuclear matrix	DNA binding|protein C-terminus binding|sequence-specific DNA binding transcription factor activity|structural constituent of cytoskeleton			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)	5	all_epithelial(5;9.25e-35)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;6.89e-18)|BRCA - Breast invasive adenocarcinoma(5;3.14e-09)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			AGAAGATGGGCACACTCATCA	0.318000														66			22		0	0	0.002299	0	0
PPIC	5480	broad.mit.edu	37	5	122361629	122361629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:122361629C>T	uc003kth.3	-	3	465	c.360G>A	c.(358-360)gaG>gaA	p.E120E		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	120	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GCTTGAAGTTCTCATCTGGAA	0.473000														36			4		0	0	0.000248	0	0
PCDH15	65217	broad.mit.edu	37	10	55944921	55944921	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:55944921C>T	uc010qhy.1	-	12	1823	c.1428G>A	c.(1426-1428)agG>agA	p.R476R	PCDH15_uc010qhq.2_Silent_p.R476R|PCDH15_uc010qhr.2_Silent_p.R471R|PCDH15_uc021pqv.1_Silent_p.R471R|PCDH15_uc021pqw.1_Silent_p.R483R|PCDH15_uc010qht.2_Silent_p.R478R|PCDH15_uc021pqx.1_Silent_p.R471R|PCDH15_uc001jjv.1_Silent_p.R449R|PCDH15_uc021pqy.1_Silent_p.R471R|PCDH15_uc021pqz.1_Silent_p.R449R|PCDH15_uc010qhv.1_Silent_p.R471R|PCDH15_uc010qhw.1_Silent_p.R434R|PCDH15_uc010qhx.1_Silent_p.R471R|PCDH15_uc010qhz.1_Silent_p.R471R|PCDH15_uc010qia.1_Silent_p.R449R|PCDH15_uc001jju.1_Silent_p.R471R|PCDH15_uc010qib.1_Silent_p.R449R|PCDH15_uc001jjw.3_Silent_p.R471R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	471	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTGTTCTTCCCTGTCCACTG	0.398000										HNSCC(58;0.16)				26			25		0	0	0.004656	0	0
ZNF681	148213	broad.mit.edu	37	19	23926506	23926506	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:23926506T>A	uc002nrk.4	-	3	1988	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	ZNF681_uc002nrl.4_Nonsense_Mutation_p.K547*|ZNF681_uc002nrj.4_Nonsense_Mutation_p.K547*	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTGTAGAGTTTCTCACCAGTA	0.328000														4			5		0	0	0.000602	0	0
RPRD2	23248	broad.mit.edu	37	1	150445429	150445429	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:150445429C>T	uc009wlr.3	+	10	4206	c.4005C>T	c.(4003-4005)acC>acT	p.T1335T	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.T1309T	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1335	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTCAAGGGACCCTGGCTGAGC	0.637000														8			18		0	0	0.008871	0	0
CARD11	84433	broad.mit.edu	37	7	2946340	2946340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2946340G>A	uc003smv.3	-	24	3731	c.3397C>T	c.(3397-3399)Cgc>Tgc	p.R1133C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1133	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.I1132M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGACAACGCGGAGCAGCTCC	0.662000			Mis		DLBCL									104			22		0	0	0.001882	0	0
TNXB	7148	broad.mit.edu	37	6	32026088	32026088	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32026088G>A	uc003nzl.2	-	21	7774	c.7572C>T	c.(7570-7572)ctC>ctT	p.L2524L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2584	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTCCCCCAGGAGAGGCTCCT	0.632000														790			77		0	0	0.003610	0	0
JPH2	57158	broad.mit.edu	37	20	42744361	42744361	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:42744361T>C	uc002xli.1	-	3	2827	c.1954A>G	c.(1954-1956)Aag>Gag	p.K652E	JPH2_uc021wea.1_5'Flank	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	652					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGCCTTCTTCTTGGCCCCC	0.677000														35			10		0	0	0.000978	0	0
ZFP28	140612	broad.mit.edu	37	19	57051083	57051083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57051083C>T	uc002qnj.3	+	1	369	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ZFP28_uc002qni.3_Nonsense_Mutation_p.Q100*	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGCCATGTCCCAGGTGAGTTG	0.458000														23			5		0	0	0.000602	0	0
KLHL22	84861	broad.mit.edu	37	22	20812259	20812259	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:20812259G>A	uc002zsl.2	-	4	1298	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*	KLHL22_uc011ahr.2_Nonsense_Mutation_p.Q238*	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	381					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GACTGGATCTGGAACCAGCGG	0.597000														26			10		0	0	0.000978	0	0
GRIA1	2890	broad.mit.edu	37	5	153175112	153175112	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:153175112G>A	uc011dcy.2	+	13	2404	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	GRIA1_uc003lva.4_Missense_Mutation_p.D783N|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.D688N|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	783					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGGTACGATAAAGGGGA	0.483000														22			17		0	0	0.007413	0	0
RFFL	117584	broad.mit.edu	37	17	33348531	33348531	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:33348531G>A	uc010cti.1	-	2	692	c.468C>T	c.(466-468)acC>acT	p.T156T	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.T150T|RFFL_uc002hin.1_Silent_p.T150T|RFFL_uc002hip.2_Silent_p.T150T|RFFL_uc002hio.2_Silent_p.T150T	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	150					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTGGGGACAAGGTGGAGGCAC	0.577000														9			10		0	0	0.006214	0	0
MIA3	375056	broad.mit.edu	37	1	222798135	222798135	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:222798135C>T	uc001hnl.3	+	2	302	c.293C>T	c.(292-294)cCa>cTa	p.P98L	MIA3_uc009xea.1_5'Flank	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	98	SH3.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGATATTTTCCAAAAGATTTA	0.353000														207			359		0	0	0.003610	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107257	27107257	+	Missense_Mutation	SNP	G	A	A	rs140361782		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:27107257G>A	uc003niy.1	+	0	170	c.170G>A	c.(169-171)gGa>gAa	p.G57E	HIST1H2BK_uc003nix.2_Intron	NM_003495	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4i (HIST1H4I), mRNA.	57					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GAGACCCGCGGAGTGTTGAAG	0.632000			T	BCL6	NHL									64			15		0	0	0.003163	0	0
FCHO1	23149	broad.mit.edu	37	19	17881307	17881307	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:17881307C>T	uc002nhg.3	+	7	689	c.410C>T	c.(409-411)tCc>tTc	p.S137F	FCHO1_uc010ebb.2_Missense_Mutation_p.S137F|FCHO1_uc002nhh.2_Missense_Mutation_p.S137F|FCHO1_uc010xpw.1_Missense_Mutation_p.S87F|FCHO1_uc010ebc.1_Missense_Mutation_p.S144F	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	137										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTGCCCAAGTCCCGCGAGAAC	0.622000														20			13		0	0	0.001368	0	0
NRIP2	83714	broad.mit.edu	37	12	2936809	2936809	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:2936809C>T	uc001qlc.3	-	4	807	c.735G>A	c.(733-735)caG>caA	p.Q245Q	ITFG2_uc010sec.2_Intron|NRIP2_uc010sed.1_Silent_p.Q245Q	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	Homo sapiens nuclear receptor interacting protein 2 (NRIP2), mRNA.	245					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AAAGCAGAGTCTGCAGGCCCA	0.522000														113			63		0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51395443	51395443	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:51395443G>A	uc011bds.2	+	45	4842	c.4819G>A	c.(4819-4821)Gaa>Aaa	p.E1607K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1607	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGTGCACCCAGAAATGCGGCC	0.507000														102			25		0	0	0.005443	0	0
FBXO42	54455	broad.mit.edu	37	1	16577532	16577532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:16577532C>T	uc001ayg.3	-	9	2003	c.1787G>A	c.(1786-1788)gGa>gAa	p.G596E	FBXO42_uc001ayf.3_Missense_Mutation_p.G503E	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	596										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACTGTTTCTCCACTGCTCAA	0.607000														53			27		0	0	0.004656	0	0
PLRG1	5356	broad.mit.edu	37	4	155458438	155458438	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:155458438G>A	uc003iny.3	-	14	1610	c.1485_splice	c.e14+1	p.A495_splice	PLRG1_uc003inz.3_Splice_Site_p.A486_splice	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	495						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CAGAACTTACGGCTGTGTCAT	0.328000														14			13		0	0	0.001855	0	0
ETV5	2119	broad.mit.edu	37	3	185783621	185783621	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:185783621C>T	uc003fpy.3	-	7	1082	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	ETV5_uc003fpz.3_Silent_p.R297R	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	297					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CGCAGTAATCCCGAGGCTCCT	0.507000			T	"""TMPRSS2, SCL45A3"""	Prostate									136			65		0	0	0.003610	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33893999	33893999	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:33893999C>T	uc003cfx.3	+	12	1816	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	PDCD6IP_uc003cfy.3_Missense_Mutation_p.S559F|PDCD6IP_uc011axw.2_Missense_Mutation_p.S335F	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	554	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTCTTAAAATCCTTATTGTCA	0.303000														25			7		0	0	0.008291	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415625	210415625	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:210415625A>T	uc001hhy.3	+	3	1193	c.1014A>T	c.(1012-1014)aaA>aaT	p.K338N	SERTAD4_uc009xcw.3_Missense_Mutation_p.K338N	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	338							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		CCTTACGGAAAAAGGAGGCTT	0.388000														64			21		0	0	0.001882	0	0
RP1	6101	broad.mit.edu	37	8	55541479	55541479	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:55541479A>G	uc003xsd.1	+	3	5185	c.5037A>G	c.(5035-5037)tcA>tcG	p.S1679S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1679					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)			AAGGGCAGTCATTTGGCTCTT	0.413000														117			90		0	0	0.003610	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594583	31594583	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31594583C>T	uc003nvb.4	+	9	1266	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Silent_p.L339L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	339	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTGAAAAGCTCAAGTTCAGCG	0.527000														43			5		0	0	0.001984	0	0
DNAH10	196385	broad.mit.edu	37	12	124377950	124377950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:124377950G>A	uc001uft.4	+	51	8837	c.8812G>A	c.(8812-8814)Gac>Aac	p.D2938N		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2938	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCAGTGGGGGACACCCTGAG	0.582000														66			26		0	0	0.001786	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329477	117329477	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:117329477C>T	uc001prh.1	-	18	3743	c.3741G>A	c.(3739-3741)aaG>aaA	p.K1247K		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1187	Fibronectin type-III 4.				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)		CACCGTCCTCCTTGGTCTGGA	0.647000														7			7		0	0	0.003080	0	0
DEFB125	245938	broad.mit.edu	37	20	76862	76862	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:76862C>T	uc002wcw.3	+	1	275	c.275C>T	c.(274-276)cCa>cTa	p.P92L		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	92					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACTGGTTCCCCAGTATCTATG	0.383000														143			27		0	0	0.004656	0	0
TSPEAR	54084	broad.mit.edu	37	21	45941911	45941911	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:45941911G>A	uc002zfe.1	-	8	1487	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	TSPEAR_uc010gpv.1_Missense_Mutation_p.S406F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	474					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GTAGGCGCCGGAGGTGGCGAT	0.607000														63			51		0	0	0.003610	0	0
ESRP1	54845	broad.mit.edu	37	8	95680371	95680371	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:95680371C>T	uc003ygq.4	+	9	1309	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	ESRP1_uc003ygr.4_Missense_Mutation_p.L376F|ESRP1_uc003ygs.4_Missense_Mutation_p.L376F|ESRP1_uc003ygt.4_Missense_Mutation_p.L376F|ESRP1_uc003ygu.4_Missense_Mutation_p.L376F|ESRP1_uc003ygv.3_Missense_Mutation_p.L216F|ESRP1_uc003ygw.3_Missense_Mutation_p.L216F	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	376	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGCTTTTGTCCTCTTTGCCTG	0.488000														671			175		0	0	0.003610	0	0
SLC36A1	206358	broad.mit.edu	37	5	150838456	150838456	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:150838456C>T	uc003luc.3	+	1	320	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	SLC36A1_uc003lub.1_Missense_Mutation_p.P35S|SLC36A1_uc010jhw.1_Missense_Mutation_p.P35S	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	35					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCTCTCCTCCCCGGGCTCCTA	0.577000														62			25		0	0	0.005443	0	0
EHMT2	10919	broad.mit.edu	37	6	31860664	31860665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31860664_31860665GG>AA	uc003nxz.1	-	4	615_616	c.605_606CC>TT	c.(604-606)ccc>cTT	p.P202L	EHMT2_uc003nxy.1_5'UTR|EHMT2_uc011don.1_Missense_Mutation_p.P259L|EHMT2_uc003nya.1_Missense_Mutation_p.P202L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	202					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTATTTCAGGGGGCCGCTTCTC	0.619000														721			91		0	0	0.004672	0	0
RGS22	26166	broad.mit.edu	37	8	101083691	101083691	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:101083691G>A	uc003yjb.1	-	5	695	c.500C>T	c.(499-501)cCc>cTc	p.P167L	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Missense_Mutation_p.P167L|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.P71L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	167					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CACGATCCAGGGAGAAAAATT	0.378000														110			21		0	0	0.002299	0	0
COL2A1	1280	broad.mit.edu	37	12	48380960	48380960	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:48380960C>T	uc001rqu.3	-	21	1448	c.1267_splice	c.e21-1	p.G423_splice	COL2A1_uc009zkw.3_Splice_Site|COL2A1_uc001rqv.3_Splice_Site_p.G354_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	423	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CAGGAGCACCCTGTGGGCATG	0.647000														55			24		0	0	0.002780	0	0
RECK	8434	broad.mit.edu	37	9	36122903	36122903	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:36122903T>A	uc003zyv.3	+	20	2863	c.2777T>A	c.(2776-2778)cTc>cAc	p.L926H	RECK_uc003zyw.3_Missense_Mutation_p.L798H|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.	926						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)			CATGTCCCTCTCTCTGCCCTC	0.557000														110			32		0	0	0.004878	0	0
APLNR	187	broad.mit.edu	37	11	57003372	57003372	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57003372G>A	uc001njo.3	-	0	1556	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	369						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGTAGGGGATGGATTTCTCGT	0.627000														58			14		0	0	0.004007	0	0
POLR2E	5434	broad.mit.edu	37	19	1091854	1091854	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:1091854C>T	uc002lre.4	-	2	362	c.285G>A	c.(283-285)caG>caA	p.Q95Q	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	95					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCTCCTCCTGCATGCGCT	0.662000														27			24		0	0	0.003954	0	0
FCRL3	115352	broad.mit.edu	37	1	157665914	157665914	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:157665914C>T	uc001fqz.4	-	6	1340	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.E76K|FCRL3_uc001frb.3_Missense_Mutation_p.E350K|FCRL3_uc001frc.1_Missense_Mutation_p.E350K	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	350	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCATCACTCTCCTTCACGGTG	0.517000														25			63		0	0	0.003610	0	0
PNPT1	87178	broad.mit.edu	37	2	55921011	55921011	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:55921011G>A	uc002rzf.2	-	1	1	c.-52_splice	c.e1-1			NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.						RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACTCCGCAGACCGTGGGGC	0.667000														8			4		0	0	0.000248	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291250	1291250	+	Missense_Mutation	SNP	C	T	T	rs17841226	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:1291250C>T	uc002ckz.3	+	2	210	c.158C>T	c.(157-159)cCa>cTa	p.P53L	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	53	Peptidase S1.		HGP -> RDR (in beta-III).		proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GTCCACGGCCCATACTGGATG	0.711000														24			18		0	0	0.001523	0	0
ALK	238	broad.mit.edu	37	2	29917849	29917849	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:29917849C>T	uc002rmy.3	-	2	1771	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	273	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AATACTCCAGCTCACAGGGGA	0.567000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					75			24		0	0	0.003954	0	0
KLHL6	89857	broad.mit.edu	37	3	183273311	183273311	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183273311C>T	uc003flr.3	-	0	189	c.131G>A	c.(130-132)gGg>gAg	p.G44E	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.G42E	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	44										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GACCTTTTCCCCATTTAAGAT	0.498000														110			34		0	0	0.003271	0	0
SLA2	84174	broad.mit.edu	37	20	35242336	35242336	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:35242336C>T	uc002xfv.3	-	7	1142	c.719G>A	c.(718-720)gGt>gAt	p.G240D	SLA2_uc002xfu.3_3'UTR	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	240	SLA C-terminal.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCCCGGAGACCCTCACTGAG	0.542000														53			18		0	0	0.006122	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222222	91222222	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:91222222C>T	uc001kgm.3	-	2	415	c.114G>A	c.(112-114)cgG>cgA	p.R38R		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	8						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGGAGGTAGACCGAGCTCTAT	0.478000														52			24		0	0	0.008361	0	0
FBN2	2201	broad.mit.edu	37	5	127640745	127640745	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:127640745C>T	uc003kuu.3	-	44	6143	c.5704G>A	c.(5704-5706)Gtt>Att	p.V1902I		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1902	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGACTGCAAACGTTAGGAATT	0.368000														36			12		0	0	0.001855	0	0
OR1S2	219958	broad.mit.edu	37	11	57970829	57970829	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57970829G>A	uc010rkb.2	-	0	825	c.825C>T	c.(823-825)ccC>ccT	p.P275P		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P275L(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGTGGAGGAGGGGAAAAAGT	0.493000														48			51		0	0	0.003610	0	0
ICK	22858	broad.mit.edu	37	6	52869951	52869951	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:52869951C>T	uc003pbh.2	-	14	2385	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q	ICK_uc003pbi.2_Missense_Mutation_p.R632Q	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	632					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					AGACAGTCATCGCCGAGATGC	0.567000														161			27		0	0	0.001786	0	0
DHX8	1659	broad.mit.edu	37	17	41599556	41599556	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:41599556C>T	uc002idu.1	+	21	3477	c.3405C>T	c.(3403-3405)atC>atT	p.I1135I	DHX8_uc010wig.2_Silent_p.I1135I	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1135						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGGTCTATATCCATCCTTCCA	0.532000														47			21		0	0	0.002299	0	0
CCR8	1237	broad.mit.edu	37	3	39374818	39374818	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:39374818G>A	uc010hhr.2	+	1	1134	c.996G>A	c.(994-996)agG>agA	p.R332R	CCR8_uc003cjm.2_Silent_p.R249R|CCR8_uc021wwe.1_Silent_p.R332R	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	332					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		AAATGCCTAGGGAGAGCTGTG	0.418000														61			18		0	0	0.008871	0	0
VSTM1	284415	broad.mit.edu	37	19	54545034	54545034	+	Splice_Site	SNP	G	A	A	rs148134957	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54545034G>A	uc002qcw.4	-	8	767	c.591_splice	c.e8+1	p.S197_splice	VSTM1_uc021vbe.1_Splice_Site|VSTM1_uc021vbf.1_Splice_Site_p.S109_splice|VSTM1_uc002qcx.4_Splice_Site_p.S166_splice|VSTM1_uc010erb.3_Splice_Site|VSTM1_uc021vbg.1_Splice_Site_p.S77_splice	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	197						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGACTCACCGAGAGAGATAC	0.458000														26			7		0	0	0.003080	0	0
ZHX3	23051	broad.mit.edu	37	20	39830930	39830930	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:39830930G>A	uc010ggg.1	-	0	2777	c.2627C>T	c.(2626-2628)tCc>tTc	p.S876F	ZHX3_uc002xjr.1_Missense_Mutation_p.S876F|ZHX3_uc002xjs.1_Missense_Mutation_p.S876F|ZHX3_uc002xjt.1_Missense_Mutation_p.S876F|ZHX3_uc002xju.1_Missense_Mutation_p.S876F|ZHX3_uc002xjv.1_Missense_Mutation_p.S876F|ZHX3_uc002xjw.1_Missense_Mutation_p.S876F	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	876					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GACCTGCTGGGAGCTCATCTG	0.577000														120			45		0	0	0.002522	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819489	31819489	+	Silent	SNP	C	T	T	rs142018701		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:31819489C>T	uc001zfq.3	-	4	768	c.675G>A	c.(673-675)cgG>cgA	p.R225R	OTUD7A_uc001zfr.3_Silent_p.R225R	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	225	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		ACACCAGGTCCCGGTCGTGAA	0.557000														35			15		0	0	0.004007	0	0
DSG4	147409	broad.mit.edu	37	18	28992958	28992958	+	Silent	SNP	G	A	A	rs151048983		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:28992958G>A	uc002kwr.2	+	14	2715	c.2580G>A	c.(2578-2580)agG>agA	p.R860R	DSG4_uc002kwq.2_Silent_p.R841R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	841					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAAAATTTAGGACTCTTGCTG	0.443000														34			30		0	0	0.008361	0	0
GPD2	2820	broad.mit.edu	37	2	157425455	157425455	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:157425455C>T	uc002tzf.4	+	9	1644	c.1284C>T	c.(1282-1284)ggC>ggT	p.G428G	GPD2_uc010zch.2_Silent_p.G201G|GPD2_uc002tzd.4_Silent_p.G428G|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	428					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						GTGAGAGTGGCCTTATTACTA	0.413000														61			43		0	0	0.003610	0	0
OR5L1	219437	broad.mit.edu	37	11	55578978	55578978	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55578978C>T	uc001nhw.1	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCTGAGTTCATTCTCCTTG	0.423000														250			55		0	0	0.003610	0	0
ZAN	7455	broad.mit.edu	37	7	100382454	100382454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:100382454C>T	uc003uwj.3	+	36	6994	c.6829C>T	c.(6829-6831)Cct>Tct	p.P2277S	ZAN_uc003uwk.3_Missense_Mutation_p.P2277S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.P328S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2278	VWFC 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCTCCATCCCTGTGAGTGG	0.562000														9			8		0	0	0.003080	0	0
STK11IP	114790	broad.mit.edu	37	2	220476456	220476456	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:220476456C>T	uc002vml.3	+	17	2311	c.2268C>T	c.(2266-2268)gtC>gtT	p.V756V		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	756					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCCCTGTCTGCCACCCTC	0.637000														16			13		0	0	0.001855	0	0
PUF60	22827	broad.mit.edu	37	8	144899816	144899816	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:144899816G>A	uc003yzs.3	-	8	1018	c.954C>T	c.(952-954)ctC>ctT	p.L318L	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Silent_p.L275L|PUF60_uc003yzr.3_Silent_p.L258L|PUF60_uc003yzt.3_Silent_p.L301L|PUF60_uc003yzu.1_Silent_p.L307L	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	318	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CGGCAGGTGGGAGGCCTCCAG	0.662000														77			41		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9086712	9086712	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9086712G>A	uc002mkp.3	-	0	5307	c.5103C>T	c.(5101-5103)tcC>tcT	p.S1701S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1701	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1701fs*8(1)|p.S1701P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGACAGAGGAAACTCTTC	0.488000														66			53		0	0	0.003610	0	0
TMEM105	284186	broad.mit.edu	37	17	79287651	79287651	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:79287651G>A	uc002kad.2	-	2	740	c.190C>T	c.(190-192)Cct>Tct	p.P64S		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	64						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCCCCCCAAGGAGACCGAGGT	0.622000														33			56		0	0	0.003610	0	0
OR52E4	390081	broad.mit.edu	37	11	5905976	5905976	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:5905976G>A	uc010qzs.2	+	0	454	c.454G>A	c.(454-456)Gga>Aga	p.G152R	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTGTTGGAAGAAATTT	0.463000														49			30		0	0	0.008361	0	0
CCBP2	1238	broad.mit.edu	37	3	42906718	42906718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:42906718C>T	uc003cme.3	+	2	902	c.724C>T	c.(724-726)Ccc>Tcc	p.P242S	CCBP2_uc003cmf.3_Missense_Mutation_p.P242S|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.P242S	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	242					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GAGGCTGAGGCCCGCAGGCCA	0.537000														116			43		0	0	0.003214	0	0
FLRT2	23768	broad.mit.edu	37	14	86089130	86089130	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:86089130G>A	uc021rxf.1	+	0	1272	c.1272G>A	c.(1270-1272)cgG>cgA	p.R424R	FLRT2_uc001xvr.3_Silent_p.R424R|FLRT2_uc010atd.3_Silent_p.R424R	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	424	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTCTGAACGGATCCAGCTCT	0.483000														22			12		0	0	0.001368	0	0
CR1	1378	broad.mit.edu	37	1	207785184	207785184	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:207785184C>T	uc001hfy.3	+	29	5248	c.5108C>T	c.(5107-5109)gCc>gTc	p.A1703V	CR1_uc001hfx.3_Missense_Mutation_p.A2153V|CR1_uc021pij.1_Missense_Mutation_p.A1703V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1703	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGCCCTGAAGCCCCTAGATGT	0.532000														135			35		0	0	0.005524	0	0
ZNF211	10520	broad.mit.edu	37	19	58152834	58152834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:58152834G>A	uc002qpr.2	+	5	1475	c.1172G>A	c.(1171-1173)aGc>aAc	p.S391N	ZNF211_uc010yhb.1_Missense_Mutation_p.S331N|ZNF211_uc002qpp.2_Missense_Mutation_p.S340N|ZNF211_uc002qpq.2_Missense_Mutation_p.S327N|ZNF211_uc002qpt.2_Missense_Mutation_p.S339N|ZNF211_uc010yhc.1_Missense_Mutation_p.S339N|ZNF211_uc010yhe.1_Missense_Mutation_p.S318N|ZNF211_uc010yhd.1_Missense_Mutation_p.S266N	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGATATACAGCCTCAATAGC	0.438000														34			8		0	0	0.004482	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702206	8702206	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:8702206G>A	uc002glp.2	-	0	462	c.233C>T	c.(232-234)gCg>gTg	p.A78V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	78						integral to membrane		p.R77K(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GATCAGAAGCGCTCTCCTTTT	0.612000														28			24		0	0	0.003330	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026739	176026739	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:176026739C>A	uc003meo.1	-	1	272	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	GPRIN1_uc021yif.1_Missense_Mutation_p.G33W	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	33						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGCTCCCATCCTGTGGG	0.647000														73			5		0.000602214	0.000894197	0.000602	1	0
ALPK3	57538	broad.mit.edu	37	15	85400209	85400209	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:85400209C>T	uc002ble.3	+	5	3013	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	949					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.P949S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACAGCGGGTCCTAGAGCTCCT	0.557000														43			33		0	0	0.003271	0	0
NUP133	55746	broad.mit.edu	37	1	229623321	229623321	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:229623321A>C	uc001htn.3	-	9	1326	c.1234T>G	c.(1234-1236)Ttt>Gtt	p.F412V		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	412					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGGTTTGAAAAGTTTGGGACC	0.348000														41			89		0	0	0.003610	0	0
KRT6C	286887	broad.mit.edu	37	12	52864331	52864331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52864331C>T	uc001sal.4	-	5	1209	c.1161G>A	c.(1159-1161)atG>atA	p.M387I		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	387	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R386C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCCTCTGGATCATGCGGTTGA	0.547000														77			24		0	0	0.005443	0	0
PTPRT	11122	broad.mit.edu	37	20	40770640	40770640	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:40770640G>A	uc002xkg.3	-	17	2869	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	PTPRT_uc010ggj.3_Silent_p.A914A|PTPRT_uc010ggi.3_Silent_p.A98A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	895	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCTGGTAAGGCCTAAAAAG	0.502000														83			43		0	0	0.008740	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138758	32138758	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32138758G>A	uc003oae.3	-	2	625	c.290C>T	c.(289-291)cCc>cTc	p.P97L	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Splice_Site_p.P61_splice|AGPAT1_uc003oag.3_Intron|AGPAT1_uc003oah.3_Missense_Mutation_p.P97L|AGPAT1_uc003oai.1_Missense_Mutation_p.P97L|AGPAT1_uc011dpl.2_Intron	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	97					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AACAACATAGGGCTGCGAGGG	0.592000														806			97		0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7579632	7579632	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7579632C>T	uc003mxp.1	+	22	3488	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	DSP_uc003mxq.1_Missense_Mutation_p.S1070F|DSP_uc021yle.1_Missense_Mutation_p.S1070F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1070	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGAGTGTTCCCAGTTCAAA	0.507000														100			24		0	0	0.003954	0	0
NEGR1	257194	broad.mit.edu	37	1	72241872	72241872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:72241872C>T	uc001dfw.3	-	2	746	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_uc001dfv.3_Missense_Mutation_p.R45Q|NEGR1_uc010oqs.2_Missense_Mutation_p.R173Q	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	173	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane		p.R173*(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGATGTGTCGCCAAGAAAT	0.418000														11			16		0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62295771	62295771	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62295771G>A	uc001ntl.3	-	4	6418	c.6118C>T	c.(6118-6120)Cat>Tat	p.H2040Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2040					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCATGAACATCCACA	0.498000														171			111		0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161379	40161379	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:40161379G>A	uc003ayg.3	-	5	1319	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	356										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCTGGTTATGGAAAGTAGAAT	0.413000														36			34		0	0	0.004289	0	0
FAM176C	59271	broad.mit.edu	37	21	33887342	33887342	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:33887342C>T	uc002ypr.1	+	7	1578	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	FAM176C_uc010glw.1_Silent_p.L387L|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Silent_p.L295L	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	390						integral to membrane	sugar binding										CCCAGGGGAACTGTCGGGGTT	0.532000														45			26		0	0	0.003954	0	0
TRPA1	8989	broad.mit.edu	37	8	72966005	72966005	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:72966005G>A	uc003xza.3	-	12	1802	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	543						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCATCCAGGCGATCTGTGCAC	0.478000														47			7		0	0	0.004482	0	0
KCNB1	3745	broad.mit.edu	37	20	47989747	47989747	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:47989747G>A	uc002xur.1	-	1	2516	c.2350C>T	c.(2350-2352)Ccg>Tcg	p.P784S	KCNB1_uc002xus.1_Missense_Mutation_p.P784S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	784					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P784Q(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTGAACTTCGGACTGGTGCTC	0.537000														290			112		0	0	0.003610	0	0
CHL1	10752	broad.mit.edu	37	3	361522	361522	+	Silent	SNP	C	T	T	rs142096855		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:361522C>T	uc003bot.3	+	2	705	c.63C>T	c.(61-63)ttC>ttT	p.F21F	CHL1_uc003bou.3_Silent_p.F21F|CHL1_uc003bow.2_Silent_p.F21F|CHL1_uc011asi.2_Silent_p.F21F	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.	21					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)		TGTTAAAATTCTCAAAAGCAA	0.328000														32			16		0	0	0.007413	0	0
TTLL2	83887	broad.mit.edu	37	6	167755030	167755030	+	Missense_Mutation	SNP	G	A	A	rs111648937		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:167755030G>A	uc003qvs.1	+	2	1730	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	548					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCGTGGCAAAGCTCCAGATCC	0.507000														43			32		0	0	0.003755	0	0
ROBO2	6092	broad.mit.edu	37	3	77595509	77595509	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:77595509C>T	uc011bgk.2	+	7	1610	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	ROBO2_uc021xat.1_Missense_Mutation_p.R335W|ROBO2_uc003dpy.4_Missense_Mutation_p.R319W|ROBO2_uc003dpz.3_Missense_Mutation_p.R323W|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	319	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GTTTGTGGTTCGGCCAAGAGA	0.393000														135			57		0	0	0.003610	0	0
CRTC2	200186	broad.mit.edu	37	1	153923985	153923985	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:153923985G>A	uc021pab.1	-	10	1314	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	385	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCCAGGGAGGTGGTGGGCA	0.647000														38			13		0	0	0.004990	0	0
ABCA8	10351	broad.mit.edu	37	17	66925360	66925360	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:66925360A>G	uc002jhq.3	-	8	1295	c.955T>C	c.(955-957)Tta>Cta	p.L319L	ABCA8_uc002jhp.3_Silent_p.L319L|ABCA8_uc010wqq.2_Silent_p.L319L|ABCA8_uc010wqr.2_Silent_p.L258L|ABCA8_uc002jhr.3_Silent_p.L319L	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	319						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ATGCTCATTAAGAAAGCCAAA	0.373000														17			17		0	0	0.004990	0	0
PRDM14	63978	broad.mit.edu	37	8	70971050	70971050	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:70971050C>T	uc003xym.3	-	5	1413	c.1211G>A	c.(1210-1212)aGa>aAa	p.R404K		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTTCCCACATCTTTCACATCT	0.428000														79			19		0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	9062833	9062833	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9062833C>T	uc002mkp.3	-	2	24817	c.24613G>A	c.(24613-24615)Gat>Aat	p.D8205N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8207	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						CCAGGAGGATCTGTTTGTGTC	0.468000														18			16		0	0	0.007413	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2883636	2883636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:2883636C>T	uc010ckd.3	+	8	742	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	RAP1GAP2_uc010cke.3_Missense_Mutation_p.P203S	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	218					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						GAGCAAGCTTCCCAGTGTCCC	0.547000														21			11		0	0	0.001855	0	0
USH2A	7399	broad.mit.edu	37	1	216258115	216258115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:216258115C>T	uc001hku.1	-	24	5479	c.5092G>A	c.(5092-5094)Gaa>Aaa	p.E1698K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1698	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TTGATTTGTTCTTCAGAACTC	0.423000										HNSCC(13;0.011)				82			27		0	0	0.004656	0	0
CCND3	896	broad.mit.edu	37	6	41909260	41909260	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41909260G>A	uc003orn.3	-	0	293	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CCND3_uc003orp.3_Intron|CCND3_uc011duk.2_Intron|CCND3_uc011dum.1_Intron|CCND3_uc003orm.3_5'Flank|CCND3_uc003oro.3_Missense_Mutation_p.S43F|CCND3_uc011dul.1_Missense_Mutation_p.S43F	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	43	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGAAGTAGGAGGCGCGGGG	0.721000			T	IGH@	MM									38			6		0	0	0.001168	0	0
TTBK1	84630	broad.mit.edu	37	6	43226883	43226884	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43226883_43226884CC>TT	uc003ouq.1	+	10	1403_1404	c.1124_1125CC>TT	c.(1123-1125)ccc>cTT	p.P375L		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	375						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAATTCTGCCCGGGAGGCCCT	0.644000														103			18		0	0	0.004672	0	0
DSC3	1825	broad.mit.edu	37	18	28609528	28609528	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:28609528G>T	uc002kwj.4	-	3	576	c.421C>A	c.(421-423)Cct>Act	p.P141T	DSC3_uc002kwi.4_Missense_Mutation_p.P141T	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	141	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATAGAGCAAGGAATAGGTGCC	0.413000														47			31		2.49991e-28	3.76305e-28	0.003271	1	0
TNRC6B	23112	broad.mit.edu	37	22	40718959	40718959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:40718959C>T	uc011aor.2	+	22	5427	c.5216C>T	c.(5215-5217)cCa>cTa	p.P1739L	TNRC6B_uc003aym.3_Missense_Mutation_p.P935L|TNRC6B_uc003ayn.4_Missense_Mutation_p.P1629L	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1739					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GCAGCAACCCCAAGTGCGCCA	0.587000														9			4		0	0	0.000248	0	0
ATAD2B	54454	broad.mit.edu	37	2	23985211	23985211	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:23985211A>T	uc002rek.4	-	23	3558	c.3262T>A	c.(3262-3264)Tca>Aca	p.S1088T	ATAD2B_uc002rei.4_Missense_Mutation_p.S1083T|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S256T	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	1088							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTTACTGATAAGCCTGCA	0.353000														35			12		0	0	0.000978	0	0
CTNND2	1501	broad.mit.edu	37	5	10973618	10973618	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:10973618C>T	uc003jfa.1	-	21	3770	c.3625G>A	c.(3625-3627)Gaa>Aaa	p.E1209K	CTNND2_uc010itt.2_Missense_Mutation_p.E1118K|CTNND2_uc011cmy.1_Missense_Mutation_p.E872K|CTNND2_uc011cmz.1_Missense_Mutation_p.E776K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.E801K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1209					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAGTTCAGTTCACTGTAGGGA	0.612000														53			18		0	0	0.007413	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379983	138379983	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:138379983C>T	uc022bpi.1	+	0	3627	c.3627C>T	c.(3625-3627)gtC>gtT	p.V1209V	PPP1R26_uc004cfr.1_Silent_p.V1209V	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	1209						nucleolus	protein binding										TAGTGAAGGTCTAAGCCCTCG	0.617000														4			23		0	0	0.002780	0	0
IARS	3376	broad.mit.edu	37	9	95004508	95004508	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:95004508G>A	uc004art.1	-	28	3362	c.3105C>T	c.(3103-3105)acC>acT	p.T1035T	IARS_uc004ars.1_Silent_p.T880T|IARS_uc004aru.3_Silent_p.T1035T|IARS_uc010mqr.2_Silent_p.T925T|IARS_uc010mqt.2_Silent_p.T258T	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1035					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)	CCTTTATGGTGGTAAATATGA	0.383000														31			21		0	0	0.001523	0	0
NDST1	3340	broad.mit.edu	37	5	149900862	149900862	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149900862C>T	uc003lsk.4	+	1	548	c.46C>T	c.(46-48)Ccg>Tcg	p.P16S	NDST1_uc011dcj.2_Missense_Mutation_p.P16S|NDST1_uc003lsl.3_Missense_Mutation_p.P16S	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	16					heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACGTGTCCCCGCAGGCTGT	0.647000														58			24		0	0	0.002299	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033037	82033037	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:82033037G>A	uc002fgu.3	-	2	989	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	287					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CAAAGCAGTAGACCAAGGTCA	0.507000														38			18		0	0	0.007413	0	0
SLC36A1	206358	broad.mit.edu	37	5	150853240	150853240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:150853240C>T	uc003luc.3	+	7	947	c.730C>T	c.(730-732)Cca>Tca	p.P244S	SLC36A1_uc003lub.1_Missense_Mutation_p.P244S|SLC36A1_uc010jhw.1_Missense_Mutation_p.P244S	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	244					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCAGAGGATCCCAGACCCCAG	0.448000														178			125		0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108724109	108724109	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:108724109T>A	uc003dxl.3	-	18	1908	c.1821A>T	c.(1819-1821)gaA>gaT	p.E607D	MORC1_uc011bhn.2_Missense_Mutation_p.E586D	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	607					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.H606H(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATGAAAGAGATTCATGCTTCA	0.348000														40			15		0	0	0.003163	0	0
HTR3E	285242	broad.mit.edu	37	3	183822694	183822695	+	Missense_Mutation	DNP	CC	TT	TT	rs145422207		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183822694_183822695CC>TT	uc010hxr.3	+	2	781_782	c.587_588CC>TT	c.(586-588)ccc>cTT	p.P196L	HTR3E_uc010hxq.3_Missense_Mutation_p.P170L|HTR3E_uc003fml.4_Missense_Mutation_p.P155L|HTR3E_uc003fmm.3_Missense_Mutation_p.P185L|HTR3E_uc003fmn.3_Missense_Mutation_p.P170L	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	170						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TTCTACTTCCCCTTCGACCAGC	0.475000														68			19		0	0	0.004672	0	0
TANC2	26115	broad.mit.edu	37	17	61466735	61466735	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:61466735C>T	uc002jal.4	+	14	2682	c.2659C>T	c.(2659-2661)Cca>Tca	p.P887S	TANC2_uc010wpe.2_Missense_Mutation_p.P797S|TANC2_uc002jan.1_Missense_Mutation_p.P38S|TANC2_uc002jao.4_5'UTR|TANC2_uc002jam.1_Missense_Mutation_p.P254S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	887							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AAATAATGCTCCAATTCTATG	0.443000														50			37		0	0	0.003214	0	0
LMX1A	4009	broad.mit.edu	37	1	165175183	165175183	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:165175183G>A	uc001gcz.2	-	7	1100	c.906C>T	c.(904-906)atC>atT	p.I302I	LMX1A_uc021pdz.1_Silent_p.I302I|LMX1A_uc021pdy.1_Silent_p.I53I|LMX1A_uc001gcw.2_Silent_p.I20I	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CACTCTGCTCGATGGCCAGGA	0.577000														86			23		0	0	0.002299	0	0
ZNF568	374900	broad.mit.edu	37	19	37441101	37441101	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:37441101T>C	uc002ofc.3	+	6	1564	c.1046T>C	c.(1045-1047)cTt>cCt	p.L349P	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.L348P|ZNF568_uc002ofd.3_Missense_Mutation_p.L285P|ZNF568_uc010efe.3_Missense_Mutation_p.L285P|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGCAAAATCTTATTGAGCAC	0.388000														59			29		0	0	0.008361	0	0
MPEG1	219972	broad.mit.edu	37	11	58978379	58978379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:58978379C>T	uc001nnu.4	-	0	2116	c.1960G>A	c.(1960-1962)Gga>Aga	p.G654R		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	654						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCAGCCCCTCCTGACAGACCA	0.567000														72			37		0	0	0.008740	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160664965	160664965	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:160664965G>A	uc002ubb.4	-	32	4891	c.4817C>T	c.(4816-4818)tCt>tTt	p.S1606F	LY75-CD302_uc010fos.3_Missense_Mutation_p.S1606F|LY75-CD302_uc002ubc.4_Missense_Mutation_p.S1606F	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1606	C-type lectin 10.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CTTACCAACAGAATGTTGAGA	0.343000														28			26		0	0	0.006320	0	0
GABRE	2564	broad.mit.edu	37	X	151130954	151130954	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:151130954G>A	uc004ffi.3	-	3	558	c.504C>T	c.(502-504)atC>atT	p.I168I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	168					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGCATGGTGATCTCATGCT	0.483000														4			31		0	0	0.001786	0	0
WSCD2	9671	broad.mit.edu	37	12	108634201	108634201	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:108634201G>A	uc001tms.3	+	7	1969	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	WSCD2_uc001tmt.3_Missense_Mutation_p.E409K|WSCD2_uc001tmu.3_Missense_Mutation_p.E157K	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	409						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAAAGAGATCGAGGCCTTCGA	0.607000														95			43		0	0	0.003214	0	0
OR2V2	285659	broad.mit.edu	37	5	180582833	180582833	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:180582833G>A	uc011dhj.2	+	0	891	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E297K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAACAGGGAGGTGATGGGGG	0.607000														39			13		0	0	0.004007	0	0
CAMKK1	84254	broad.mit.edu	37	17	3772873	3772873	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:3772873G>C	uc002fwv.3	-	14	1511	c.1363C>G	c.(1363-1365)Ctt>Gtt	p.L455V	CAMKK1_uc002fwt.3_Missense_Mutation_p.L417V|CAMKK1_uc002fwu.3_Missense_Mutation_p.L417V	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	417	Calmodulin-binding (By similarity).				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCCGAAGGAAGGGGCTCCTCC	0.622000														24			18		0	0	0.007413	0	0
PSMB8	5696	broad.mit.edu	37	6	32811717	32811717	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32811717G>A	uc003oce.3	-	0	100	c.57C>T	c.(55-57)ctC>ctT	p.L19L	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Silent_p.L19L|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	19					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CCGCAACCGGGAGAGCCGATT	0.652000														170			24		0	0	0.004656	0	0
FAM49A	81553	broad.mit.edu	37	2	16740731	16740731	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:16740731G>A	uc010exm.2	-	8	982	c.834C>T	c.(832-834)atC>atT	p.I278I	FAM49A_uc002rck.2_Silent_p.I278I	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	278						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTCTTACATCGATCTTGGATG	0.483000														81			37		0	0	0.005524	0	0
TNRC18	84629	broad.mit.edu	37	7	5391481	5391481	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:5391481G>A	uc003soi.4	-	16	5788	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	TNRC18_uc003soj.3_Silent_p.F195F	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1813							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		AAGAGTCGCTGAAGGAGGAAC	0.597000														71			7		0	0	0.004482	0	0
KRT8	3856	broad.mit.edu	37	12	53291216	53291216	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:53291216T>A	uc009zmk.1	-	8	1552	c.1532A>T	c.(1531-1533)aAg>aTg	p.K511M	KRT8_uc001sbd.2_Missense_Mutation_p.K483M|KRT8_uc009zml.1_Missense_Mutation_p.K483M|KRT8_uc009zmm.1_Missense_Mutation_p.K483M	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	483					cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGTTCACTTGGGCAGGAC	0.637000														41			15		0	0	0.006122	0	0
DYRK2	8445	broad.mit.edu	37	12	68043584	68043584	+	Silent	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:68043584T>A	uc001str.4	+	1	459	c.57T>A	c.(55-57)ggT>ggA	p.G19G	DYRK2_uc001sts.4_Intron	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	19					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CAGGCCGAGGTGGGGACAGCG	0.711000														16			6		0	0	0.006214	0	0
KCNB1	3745	broad.mit.edu	37	20	47989959	47989959	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:47989959A>G	uc002xur.1	-	1	2304	c.2138T>C	c.(2137-2139)cTt>cCt	p.L713P	KCNB1_uc002xus.1_Missense_Mutation_p.L713P	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	713					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTGTCCAAAAGCGTGGCACA	0.597000														41			17		0	0	0.004990	0	0
TNXB	7148	broad.mit.edu	37	6	32047071	32047071	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32047071C>T	uc003nzl.2	-	10	4316	c.4114G>A	c.(4114-4116)Gag>Aag	p.E1372K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1459	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGAGCGGCTCCTCGGGGGAC	0.637000														544			57		0	0	0.003610	0	0
OR51B6	390058	broad.mit.edu	37	11	5373580	5373580	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:5373580C>T	uc010qzb.2	+	0	843	c.843C>T	c.(841-843)ttC>ttT	p.F281F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F281F(2)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTTCCTTTTCCCACCTTTTA	0.383000														50			26		0	0	0.003330	0	0
MUC4	4585	broad.mit.edu	37	3	195517616	195517616	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:195517616C>T	uc021xjp.1	-	1	991	c.835G>A	c.(835-837)Gag>Aag	p.E279K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E161K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	284					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.F279F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATGATGTCTCCCCTGGGTTT	0.468000														54			19		0	0	0.007413	0	0
PM20D1	148811	broad.mit.edu	37	1	205817044	205817044	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:205817044G>A	uc001hdj.3	-	1	301	c.225C>T	c.(223-225)gcC>gcT	p.A75A	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	75						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			ACTCAGCCAGGGCTGTAGTAT	0.423000														79			16		0	0	0.007413	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107460	133107460	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:133107460G>A	uc001lkp.3	-	1	531	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	149	WW 1.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TTCCCAATAGGGGTTGCAAGA	0.478000														22			15		0	0	0.004007	0	0
SYNE2	23224	broad.mit.edu	37	14	64519208	64519208	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:64519208C>T	uc001xgl.3	+	47	8807	c.8577C>T	c.(8575-8577)ccC>ccT	p.P2859P	SYNE2_uc001xgm.3_Silent_p.P2859P|SYNE2_uc021ruh.1_Silent_p.P2892P	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2859					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATAATTCCCAGGGTGGAGA	0.378000														34			28		0	0	0.007291	0	0
COL3A1	1281	broad.mit.edu	37	2	189875061	189875061	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:189875061G>A	uc002uqj.1	+	48	4098	c.3981G>A	c.(3979-3981)tgG>tgA	p.W1327*		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1327	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AACACGTTTGGTTTGGAGAGT	0.393000														29			30		0	0	0.002836	0	0
GPR77	27202	broad.mit.edu	37	19	47844143	47844143	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:47844143G>A	uc002pgk.1	+	1	158	c.87G>A	c.(85-87)ctG>ctA	p.L29L	GPR77_uc010ela.1_Silent_p.L29L|GPR77_uc021uwn.1_Silent_p.L29L	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	29					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCGCCTGCCTGGCCATCGACC	0.662000														38			24		0	0	0.002299	0	0
ZNF12	7559	broad.mit.edu	37	7	6731942	6731942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:6731942G>A	uc003sqt.1	-	4	1185	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	ZNF12_uc011jxa.1_Missense_Mutation_p.R49C|ZNF12_uc003sqs.1_Missense_Mutation_p.R173C	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	211					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCCAAAATACGAATTTTCTGA	0.328000														94			10		0	0	0.008291	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894497	47894497	+	Silent	SNP	G	A	A	rs149586291		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:47894497G>A	uc003tny.2	-	29	4876	c.4842C>T	c.(4840-4842)ccC>ccT	p.P1614P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1614					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCAACATGACGGGAAATGCCC	0.383000														41			35		0	0	0.006999	0	0
EIF4A3	9775	broad.mit.edu	37	17	78120709	78120709	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:78120709G>A	uc010wuc.2	-	1	125	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	EIF4A3_uc002jxs.3_Missense_Mutation_p.L18F	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	18					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCCTCTTTGAGCAGCCGCTTT	0.647000														23			10		0	0	0.008291	0	0
CELSR3	1951	broad.mit.edu	37	3	48682556	48682556	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:48682556G>A	uc003cuf.1	-	26	8175	c.8175C>T	c.(8173-8175)taC>taT	p.Y2725Y	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.Y611Y|CELSR3_uc003cul.3_Silent_p.Y2628Y|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2628					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)		CCTGCATGCGGTAGAGGTGCA	0.662000														25			17		0	0	0.006122	0	0
FKBP15	23307	broad.mit.edu	37	9	115932877	115932877	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:115932877G>A	uc004bgs.2	-	24	2844	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	FKBP15_uc004bgr.2_Silent_p.S334S|FKBP15_uc011lxc.1_Silent_p.S478S|FKBP15_uc011lxd.1_Silent_p.S829S	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	897					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTCTCCGTAAGGACTGGAACA	0.443000														69			39		0	0	0.002222	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999085	143999086	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:143999085_143999086CC>TT	uc003yxk.1	-	0	174_175	c.171_172GG>AA	c.(169-174)agggag>agAAag	p.E58K		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	58					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	TAACCCTGCTCCCTCCAGATCT	0.634000									Familial Hyperaldosteronism type I					82			40		0	0	0.004672	0	0
SVEP1	79987	broad.mit.edu	37	9	113205957	113205957	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:113205957G>C	uc010mtz.3	-	26	4844	c.4507C>G	c.(4507-4509)Ccc>Gcc	p.P1503A	SVEP1_uc010mua.1_Missense_Mutation_p.P1503A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1503	Pentaxin.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACCGAGGGACAGTTTGTT	0.433000														15			9		0	0	0.001368	0	0
ABCB5	340273	broad.mit.edu	37	7	20682906	20682906	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:20682906G>A	uc010kuh.3	+	5	651	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	322	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGACCAAGAGGATTCGAAAAC	0.428000														25			13		0	0	0.001855	0	0
LAMC2	3918	broad.mit.edu	37	1	183196822	183196822	+	Silent	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:183196822C>G	uc001gqa.2	+	9	1772	c.1458C>G	c.(1456-1458)ccC>ccG	p.P486P	LAMC2_uc001gpz.4_Silent_p.P486P|LAMC2_uc010poa.2_Silent_p.P186P	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	486	Laminin EGF-like 6.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	p.P486P(2)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACTGCCCTCCCGGGGTCACCG	0.587000														23			8		0	0	0.003080	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016537	43016537	+	RNA	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:43016537A>G	uc001jab.4	-	4		c.2663T>C			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		AACTCATTGAACTTCATTCTT	0.313000														42			22		0	0	0.003330	0	0
NAV3	89795	broad.mit.edu	37	12	78513382	78513382	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:78513382C>T	uc001syp.3	+	14	3579	c.3406C>T	c.(3406-3408)Cgc>Tgc	p.R1136C	NAV3_uc001syo.3_Missense_Mutation_p.R1136C|NAV3_uc010sub.2_Missense_Mutation_p.R636C|NAV3_uc009zsf.3_Missense_Mutation_p.R144C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1136	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCTACAATATCGCAGCTTGCC	0.512000										HNSCC(70;0.22)				51			13		0	0	0.001368	0	0
IGSF10	285313	broad.mit.edu	37	3	151163111	151163111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:151163111G>A	uc011bod.2	-	3	4658	c.4658C>T	c.(4657-4659)cCa>cTa	p.P1553L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1553					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTAGTGCTGGCATGGGAGT	0.413000														100			46		0	0	0.002852	0	0
KIF26B	55083	broad.mit.edu	37	1	245851531	245851531	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:245851531C>T	uc001ibf.1	+	11	5686	c.5246C>T	c.(5245-5247)tCc>tTc	p.S1749F	KIF26B_uc001ibg.1_Missense_Mutation_p.S1367F|KIF26B_uc001ibh.1_Missense_Mutation_p.S991F	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1749	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGCGGCCCGTCCGCCTCCACC	0.731000														26			4		0	0	0.001168	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67236143	67236143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:67236143G>A	uc001dcv.3	+	2	324	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	65										large_intestine(2)|lung(10)|skin(1)	13						AGTTCAGATGGAAAACACCTA	0.353000														73			53		0	0	0.003610	0	0
CCDC64	92558	broad.mit.edu	37	12	120502557	120502557	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:120502557G>A	uc001txl.1	+	3	808	c.783G>A	c.(781-783)cgG>cgA	p.R261R	CCDC64_uc001txk.2_Silent_p.R261R|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Silent_p.R5R	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	261					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCAGATCGGAAACGGGAGC	0.557000														94			44		0	0	0.002522	0	0
MAD1L1	8379	broad.mit.edu	37	7	2108866	2108866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2108866G>A	uc003slh.1	-	11	1447	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	MAD1L1_uc003sle.1_Missense_Mutation_p.A123V|MAD1L1_uc003slf.1_Missense_Mutation_p.A394V|MAD1L1_uc003slg.1_Missense_Mutation_p.A394V|MAD1L1_uc010ksh.1_Missense_Mutation_p.A394V|MAD1L1_uc003sli.1_Missense_Mutation_p.A302V|MAD1L1_uc010ksi.1_Missense_Mutation_p.A347V|MAD1L1_uc010ksj.3_Missense_Mutation_p.A394V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	394	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GAGCCTCCGGGCCAGCGCCTC	0.642000														157			23		0	0	0.001786	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54917708	54917708	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:54917708C>T	uc001sgc.4	+	19	2203	c.2124C>T	c.(2122-2124)taC>taT	p.Y708Y	NCKAP1L_uc010sox.2_Silent_p.Y250Y|NCKAP1L_uc010soy.2_Silent_p.Y658Y	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	708					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTTCTGAGTACCTCAGCAGCC	0.448000														60			34		0	0	0.004878	0	0
ELMO2	63916	broad.mit.edu	37	20	44999142	44999142	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:44999142G>A	uc010zxr.1	-	20	2070	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	ELMO2_uc010zxq.1_Silent_p.A340A|ELMO2_uc002xrs.1_Silent_p.A355A|ELMO2_uc002xrt.1_Silent_p.A608A|ELMO2_uc002xru.1_Silent_p.A608A|ELMO2_uc010zxs.1_Silent_p.A425A|ELMO2_uc002xrv.1_Silent_p.A327A	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	608	PH.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CAGTGACAATGGCCTTAATGT	0.473000														87			27		0	0	0.002836	0	0
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:54783453G>A	uc004dtj.2	-	7	3084	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1018					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGACTCCACGAACTTGGATT	0.522000														0			14		0	0	0.004990	0	0
TMEM171	134285	broad.mit.edu	37	5	72419681	72419681	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:72419681C>T	uc003kcm.2	+	1	685	c.481C>T	c.(481-483)Ctt>Ttt	p.L161F	TMEM171_uc003kcn.3_Missense_Mutation_p.L161F	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	161						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GTGTGGGTTCCTTTCTCTGCA	0.557000														74			71		0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515123	47515123	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:47515123G>A	uc001cqt.3	+	10	1552	c.1302G>A	c.(1300-1302)gaG>gaA	p.E434E	CYP4X1_uc001cqr.3_Silent_p.E433E|CYP4X1_uc001cqs.3_Silent_p.E369E	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	434						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCTCTCAGGAGAATTCTGATC	0.453000														88			26		0	0	0.006320	0	0
ECE2	9718	broad.mit.edu	37	3	183995965	183995965	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183995965G>A	uc003fni.4	+	5	1006	c.968G>A	c.(967-969)tGg>tAg	p.W323*	ECE2_uc011brg.1_Nonsense_Mutation_p.W251*|ECE2_uc011brh.1_Nonsense_Mutation_p.W176*|ECE2_uc003fnl.4_Nonsense_Mutation_p.W251*|ECE2_uc003fnm.4_Nonsense_Mutation_p.W205*|ECE2_uc003fnk.4_Nonsense_Mutation_p.W176*|ECE2_uc011bri.1_Nonsense_Mutation_p.W238*|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	323	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATTGGTGGTTGGAACATTACG	0.542000														53			12		0	0	0.000978	0	0
ACOX1	51	broad.mit.edu	37	17	73945587	73945587	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:73945587G>A	uc002jqe.3	-	10	1934	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*	ACOX1_uc010wsq.2_Nonsense_Mutation_p.R487*|ACOX1_uc010wsr.2_Nonsense_Mutation_p.R457*|ACOX1_uc002jqf.3_Nonsense_Mutation_p.R525*	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	525					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCACTTGCTCGAACAAGGTCA	0.423000														72			15		0	0	0.003163	0	0
CLU	1191	broad.mit.edu	37	8	27462528	27462528	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:27462528G>A	uc003xfy.2	-	4	922	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	CLU_uc003xfw.2_Missense_Mutation_p.L248F|CLU_uc003xfx.2_Missense_Mutation_p.L248F|CLU_uc003xfz.2_Missense_Mutation_p.L248F	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	248					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATCATCTCAAGGAAGGGCTGG	0.577000														62			32		0	0	0.002836	0	0
SPRYD3	84926	broad.mit.edu	37	12	53468952	53468952	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:53468952G>A	uc001sbt.2	-	3	385	c.298C>T	c.(298-300)Cct>Tct	p.P100S	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	100	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						TAGTACTGAGGGACCAGCCCC	0.582000														96			34		0	0	0.003271	0	0
SPATA18	132671	broad.mit.edu	37	4	52944959	52944959	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:52944959C>T	uc003gzl.3	+	7	1357	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.S328L|SPATA18_uc003gzk.1_Missense_Mutation_p.S360L	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	360					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K359I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTGAGAAAATCGTTGACACCA	0.378000														153			12		0	0	0.001368	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799105	57799105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57799105G>A	uc010rjz.2	+	0	681	c.681G>A	c.(679-681)tgG>tgA	p.W227*	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACATCGTCTGGACACTGCTGC	0.542000														53			53		0	0	0.003610	0	0
NRM	11270	broad.mit.edu	37	6	30658016	30658016	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:30658016G>A	uc003nrc.3	-	1	445	c.138C>T	c.(136-138)gcC>gcT	p.A46A	PPP1R18_uc003nra.3_5'Flank|PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_Intron	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	46						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCCTGGCGGGCATCTACAG	0.582000														43			5		0	0	0.000602	0	0
USP29	57663	broad.mit.edu	37	19	57641248	57641248	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57641248G>A	uc002qny.3	+	3	1561	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	USP29_uc021vci.1_Missense_Mutation_p.G402E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	402					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAGAATGTGGGGATGAAAAT	0.398000														49			21		0	0	0.003954	0	0
DSG3	1830	broad.mit.edu	37	18	29046600	29046601	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:29046600_29046601CC>TT	uc002kws.3	+	10	1628_1629	c.1519_1520CC>TT	c.(1519-1521)cct>TTt	p.P507F		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	507					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)			CAGTTCTTCACCTTCCGTGGTT	0.446000														55			35		0	0	0.004672	0	0
CDH16	1014	broad.mit.edu	37	16	66948315	66948315	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:66948315C>T	uc002eql.3	-	7	778	c.584_splice	c.e7-1	p.G195_splice	CDH16_uc010cdy.3_Splice_Site_p.G195_splice|CDH16_uc021tjx.1_Splice_Site_p.G195_splice|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	195	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTGGTGCTCCCTAGAACAGG	0.602000														25			12		0	0	0.001368	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589305	140589305	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140589305G>A	uc003liz.3	+	0	1015	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	276	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACAAACAGTGAACTATCCTA	0.418000														120			79		0	0	0.003610	0	0
RGAG4	340526	broad.mit.edu	37	X	71349749	71349749	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:71349749G>A	uc010nlh.2	-	0	1642	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.P548S	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	548										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAAGCACAGGGGGGCGTCTT	0.602000														2			25		0	0	0.003330	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580509	50580509	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:50580509G>A	uc003bjj.3	+	16	2154	c.2071_splice	c.e16-1	p.N691_splice	MOV10L1_uc003bjk.4_Splice_Site_p.N691_splice|MOV10L1_uc011arp.2_Splice_Site_p.N671_splice|MOV10L1_uc011arq.1_Splice_Site_p.N452_splice|MOV10L1_uc010hao.1_Splice_Site	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	691					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ATAATTTCTAGAATAGGAAAA	0.428000														61			87		0	0	0.003610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328746	88328746	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:88328746C>T	uc001vln.3	+	1	1322	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	SLITRK5_uc010tic.1_Missense_Mutation_p.S127F|SLITRK5_uc021rlc.1_Missense_Mutation_p.S368F	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	368	LRRNT.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGACCAAATCCCCGGTGCCT	0.597000														12			22		0	0	0.003330	0	0
SDK1	221935	broad.mit.edu	37	7	4273011	4273011	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4273011G>A	uc003smx.3	+	40	6091	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	SDK1_uc010kso.3_Silent_p.A1240A|SDK1_uc003smy.3_Silent_p.A471A|SDK1_uc003smz.3_Silent_p.A44A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1984	Fibronectin type-III 13.				cell adhesion	integral to membrane		p.A1984A(2)|p.E1983D(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)		TGAATGAGGCGGGCTACGGGG	0.617000														154			17		0	0	0.007413	0	0
OR3A2	4995	broad.mit.edu	37	17	3181450	3181450	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:3181450G>A	uc002fvg.3	-	0	819	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	260					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTCTTCCAAAGAAAAGACAAA	0.507000														32			17		0	0	0.007413	0	0
ZNF91	7644	broad.mit.edu	37	19	23542432	23542432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:23542432C>T	uc002nre.3	-	3	3462	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.E1085K	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1117						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1117Q(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GCTGAGGACTCTTTAAAGGCT	0.408000														19			15		0	0	0.003163	0	0
GABPB2	126626	broad.mit.edu	37	1	151070367	151070367	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:151070367G>A	uc001ewr.2	+	4	842	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	GABPB2_uc010pcp.1_Missense_Mutation_p.A187T|GABPB2_uc001ewt.2_Missense_Mutation_p.A70T	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	171					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		TCCAGAGAGAGCCAACCCTGT	0.433000														42			29		0	0	0.002096	0	0
KLRC2	3822	broad.mit.edu	37	12	10587971	10587971	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:10587971G>A	uc001qyh.3	-	1	233	c.226C>T	c.(226-228)Cta>Tta	p.L76L	KLRC2_uc010she.1_Silent_p.L76L|KLRC2_uc001qyk.2_Silent_p.L76L	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	76					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATGATTCCTAGGACCTCGGCA	0.423000														77			44		0	0	0.003610	0	0
PDE6C	5146	broad.mit.edu	37	10	95372854	95372854	+	Silent	SNP	G	A	A	rs147367341		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:95372854G>A	uc001kiu.4	+	0	510	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	124	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCAAGTTTGAGGACAACCTGG	0.552000														26			20		0	0	0.008871	0	0
CACNB2	783	broad.mit.edu	37	10	18690937	18690937	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:18690937G>A	uc001ipr.2	+	2	358	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CACNB2_uc001ipt.2_Missense_Mutation_p.E100K|CACNB2_uc009xjz.1_Missense_Mutation_p.E100K|CACNB2_uc001ips.2_Missense_Mutation_p.E100K|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.E72K|CACNB2_uc001ipv.3_Missense_Mutation_p.E72K|CACNB2_uc009xka.2_Missense_Mutation_p.E72K|CACNB2_uc001ipw.2_Missense_Mutation_p.E45K|CACNB2_uc001ipx.2_Missense_Mutation_p.E45K|CACNB2_uc009xkb.1_Missense_Mutation_p.E46K|CACNB2_uc010qcm.2_Missense_Mutation_p.E46K|CACNB2_uc001ipz.2_Missense_Mutation_p.E46K|CACNB2_uc001ipy.2_Missense_Mutation_p.E46K|CACNB2_uc010qcn.2_Missense_Mutation_p.E52K|CACNB2_uc010qco.1_Missense_Mutation_p.E52K|CACNB2_uc001iqa.2_Missense_Mutation_p.E52K	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	100				ER -> Q (in Ref. 3; AAD33729).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.E100K(1)|p.E45K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAGAGAAGCGGAGCGGCAGGC	0.552000														29			10		0	0	0.008291	0	0
C1orf158	93190	broad.mit.edu	37	1	12819250	12819250	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:12819250C>T	uc001auh.3	+	2	449	c.233C>T	c.(232-234)cCt>cTt	p.P78L	C1orf158_uc010obe.1_Missense_Mutation_p.P78L	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	78										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGCTACCTTACAAACAC	0.577000														132			47		0	0	0.003610	0	0
GPX6	257202	broad.mit.edu	37	6	28472169	28472169	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28472169C>T	uc021yrx.1	-	4	616	c.566G>A	c.(565-567)gGg>gAg	p.G189E	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	189					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TCCATCGGGCCCCACCAGAAA	0.522000														85			21		0	0	0.001523	0	0
BCL2L1	598	broad.mit.edu	37	20	30309749	30309749	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:30309749C>T	uc002wwl.3	-	1	639	c.273G>A	c.(271-273)agG>agA	p.R91R	BCL2L1_uc002wwk.3_Non-coding_Transcript|BCL2L1_uc002wwm.3_Silent_p.R91R|BCL2L1_uc002wwn.3_Silent_p.R91R|BCL2L1_uc002wwo.1_Silent_p.R91R	NM_138578	NP_612815	Q07817	B2CL1_HUMAN	Homo sapiens BCL2-like 1 (BCL2L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	91					induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			CGCCTGCCTCCCTCAGCGCTT	0.607000														66			18		0	0	0.003330	0	0
ADCY6	112	broad.mit.edu	37	12	49177038	49177038	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:49177038G>A	uc001rsh.4	-	0	840	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ADCY6_uc001rsi.4_Silent_p.P60P|ADCY6_uc001rsj.4_Silent_p.P60P	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	60					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGCACCGAGGGGGGCCCGCAG	0.721000														17			7		0	0	0.001984	0	0
EI24	9538	broad.mit.edu	37	11	125448110	125448111	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:125448110_125448111CC>TT	uc009zbl.3	+	5	640_641	c.398_399CC>TT	c.(397-399)ccc>cTT	p.P133L	EI24_uc001qca.3_Missense_Mutation_p.P133L|EI24_uc001qcb.3_Missense_Mutation_p.P133L|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Missense_Mutation_p.P119L|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	133					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TGGGTGCTCCCCTTGTTTGTGC	0.500000														59			46		0	0	0.004672	0	0
RPE65	6121	broad.mit.edu	37	1	68912499	68912499	+	Missense_Mutation	SNP	G	A	A	rs61752865		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:68912499G>A	uc001dei.1	-	2	193	c.139C>T	c.(139-141)Cca>Tca	p.P47S		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	47					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGAGTCCTGGCCCACATCGA	0.517000														35			28		0	0	0.002096	0	0
TECTA	7007	broad.mit.edu	37	11	120998869	120998869	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:120998869C>T	uc010rzo.2	+	7	2183	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	728	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACGGCGCCTCCTACGCCTTC	0.617000														30			32		0	0	0.004289	0	0
CCDC116	164592	broad.mit.edu	37	22	21988757	21988757	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:21988757C>G	uc002zve.3	+	2	612	c.519C>G	c.(517-519)agC>agG	p.S173R	CCDC116_uc011aih.1_Missense_Mutation_p.S173R	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	173										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCTCCCACAGCCGGGACAGTG	0.607000														45			17		0	0	0.007413	0	0
FAM161A	84140	broad.mit.edu	37	2	62067438	62067438	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:62067438G>A	uc002sbm.4	-	2	803	c.701C>T	c.(700-702)cCc>cTc	p.P234L	FAM161A_uc002sbn.4_Missense_Mutation_p.P44L|FAM161A_uc010ypo.2_Missense_Mutation_p.P234L|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.P125L	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	234					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTAATTGTGGGCACCCATTC	0.363000														78			25		0	0	0.004656	0	0
ZNF205	7755	broad.mit.edu	37	16	3166463	3166463	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:3166463C>T	uc002cub.3	+	4	534	c.399C>T	c.(397-399)ctC>ctT	p.L133L	MGC3771_uc010bte.2_5'Flank|MGC3771_uc002ctz.3_5'Flank|ZNF205_uc002cua.3_Silent_p.L133L	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	133	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCTTGTACCTCTCCCGGGAGG	0.562000														23			17		0	0	0.008871	0	0
PRKCG	5582	broad.mit.edu	37	19	54386423	54386423	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54386423C>T	uc002qcq.1	+	1	459	c.177C>T	c.(175-177)atC>atT	p.I59I	PRKCG_uc010eqz.1_Silent_p.I59I|PRKCG_uc010yef.1_Silent_p.I59I|PRKCG_uc010yeg.1_Silent_p.I59I|PRKCG_uc010yeh.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	59					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGGGGTATCGGAAAGCAGG	0.647000														51			22		0	0	0.006320	0	0
CCDC164	92749	broad.mit.edu	37	2	26672939	26672939	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:26672939G>A	uc002rhg.2	+	11	1659	c.1585G>A	c.(1585-1587)Gat>Aat	p.D529N		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	529										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						GCTGAGGCTGGATGCCATCTT	0.607000														4			10		0	0	0.006214	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547158	67547158	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:67547158G>A	uc003xwn.3	-	2	3506	c.3247C>T	c.(3247-3249)Cga>Tga	p.R1083*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1083					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity	p.R1083*(2)|p.R1083Q(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCTATTCGAATAAGCTCA	0.403000														100			20		0	0	0.007413	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38609982	38609982	+	Silent	SNP	C	T	T	rs61729141	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38609982C>T	uc002ohk.3	+	8	2837	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	776	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCTCCTTTCGGCCCCCCCA	0.522000														195			57		0	0	0.003610	0	0
HCP5	10866	broad.mit.edu	37	6	31431899	31431899	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31431899C>T	uc003ntl.3	+	1		c.852C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gtgcaaaatcccacgacaggt	0.488000														117			17		0	0	0.006122	0	0
SCN9A	6335	broad.mit.edu	37	2	167162316	167162316	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:167162316G>A	uc010fpl.3	-	4	923	c.582C>T	c.(580-582)gtC>gtT	p.V194V	SCN9A_uc002udr.1_Silent_p.V65V|SCN9A_uc002uds.1_Silent_p.V65V|SCN9A_uc002udt.1_Silent_p.V65V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	194						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)	AAACAATGACGACAAAATCCA	0.398000														32			23		0	0	0.003330	0	0
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:9122771G>T	uc003jek.2	-	13	2490	c.1778C>A	c.(1777-1779)tCc>tAc	p.S593Y		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	593	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567000														52			16		1.02788e-11	1.53738e-11	0.004990	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959676	117959676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:117959676C>T	uc004equ.3	+	3	942	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	ZCCHC12_uc022cdh.1_Nonsense_Mutation_p.Q157*	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ggtgcagctccagaacgctat	0.502000														7			50		0	0	0.003610	0	0
TAF4	6874	broad.mit.edu	37	20	60578892	60578892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:60578892G>A	uc002ybs.3	-	7	2266	c.2266C>T	c.(2266-2268)Ccg>Tcg	p.P756S		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	756					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCACCTGCGGGGGCCGGATC	0.652000														26			13		0	0	0.006122	0	0
PSMC4	5704	broad.mit.edu	37	19	40480516	40480516	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:40480516C>T	uc002omq.3	+	4	592	c.555C>T	c.(553-555)ctC>ctT	p.L185L	PSMC4_uc002omr.3_Silent_p.L154L	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	185				L -> V (in Ref. 4; AAC32612).	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.P184Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGCTCCCGCTCACGCATTTCG	0.632000														49			22		0	0	0.005443	0	0
ATXN1	6310	broad.mit.edu	37	6	16328174	16328174	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:16328174A>C	uc003nbt.3	-	7	1339	c.368T>G	c.(367-369)cTg>cGg	p.L123R	ATXN1_uc010jpi.3_Missense_Mutation_p.L123R|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	123					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)				GGTGTGCGGCAGGTGAGCGTA	0.667000														110			14		0	0	0.002450	0	0
MYOM1	8736	broad.mit.edu	37	18	3141961	3141961	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:3141961C>T	uc002klp.3	-	13	2335	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	MYOM1_uc002klq.3_Silent_p.E667E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	667	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACATAATGCCCTCATGACCAC	0.517000														88			36		0	0	0.006230	0	0
CHST12	55501	broad.mit.edu	37	7	2473276	2473276	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2473276C>T	uc003smc.3	+	1	1165	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CHST12_uc003smd.3_Silent_p.I334I|CHST12_uc021zyu.1_Silent_p.I334I|CHST12_uc021zyv.1_Silent_p.I334I	NM_001243794	NP_001230723	Q9NRB3	CHSTC_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA.	334					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CGTGCCAGATCGACTACGACT	0.657000														101			10		0	0	0.008291	0	0
COL23A1	91522	broad.mit.edu	37	5	177683400	177683400	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:177683400T>G	uc021yiz.1	-	15	1196	c.838_splice	c.e15-1	p.G280_splice	COL23A1_uc021yiy.1_Splice_Site_p.G56_splice|COL23A1_uc010jkt.2_Splice_Site_p.R127_splice	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	280	Collagen-like 2.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGGCTCCCCCTGTGGAGACAT	0.672000														19			13		0	0	0.006122	0	0
ZNF790	388536	broad.mit.edu	37	19	37310048	37310048	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:37310048C>A	uc021utk.1	-	4	1627	c.1198G>T	c.(1198-1200)Ggg>Tgg	p.G400W	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.G400W|ZNF790_uc021utl.1_Missense_Mutation_p.G400W|ZNF790_uc021utm.1_Missense_Mutation_p.G400W	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGGCTTTCCCACATTTCTCA	0.403000														67			29		9.39395e-14	1.40695e-13	0.006320	1	0
IGF1	3479	broad.mit.edu	37	12	102813337	102813337	+	Missense_Mutation	SNP	C	T	T	rs151098426	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:102813337C>T	uc001tjp.4	-	2	571	c.352G>A	c.(352-354)Gct>Act	p.A118T	IGF1_uc001tjn.2_Missense_Mutation_p.A102T|IGF1_uc001tjm.2_Missense_Mutation_p.A118T|IGF1_uc001tjo.2_Missense_Mutation_p.A118T	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	118	D.				DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACAGAGCGAGCTGACTTGGCA	0.607000														25			11		0	0	0.008291	0	0
FAM13C	220965	broad.mit.edu	37	10	61022203	61022203	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:61022203C>T	uc010qif.1	-	9	1359	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E	FAM13C_uc010qid.2_Silent_p.E326E|FAM13C_uc001jkn.3_Silent_p.E409E|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Silent_p.E326E|FAM13C_uc001jkp.3_Silent_p.E326E	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	409										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTTAGAATCCTCCTGGGGAG	0.517000														17			13		0	0	0.004007	0	0
ARMC2	84071	broad.mit.edu	37	6	109274522	109274522	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:109274522C>T	uc003pss.4	+	12	2057	c.1883C>T	c.(1882-1884)cCg>cTg	p.P628L	ARMC2_uc011eao.2_Missense_Mutation_p.P463L	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	628							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GCCGCCAACCCGGGGATAGTG	0.652000														14			9		0	0	0.004482	0	0
ATP10D	57205	broad.mit.edu	37	4	47527602	47527602	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:47527602C>T	uc003gxk.1	+	4	883	c.719C>T	c.(718-720)tCc>tTc	p.S240F	ATP10D_uc003gxj.3_Missense_Mutation_p.S240F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	240					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAGAAGTTTTCCAGTAGGATA	0.353000														73			10		0	0	0.006214	0	0
DUSP26	78986	broad.mit.edu	37	8	33454829	33454829	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:33454829G>A	uc003xjp.3	-	1	538	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	DUSP26_uc003xjq.3_Missense_Mutation_p.L69F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	69	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCGAGATAGAGGCCTGGCCAG	0.552000														9			9		0	0	0.006214	0	0
FLNB	2317	broad.mit.edu	37	3	58094218	58094218	+	Missense_Mutation	SNP	G	A	A	rs140945224		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:58094218G>A	uc003djj.2	+	12	2140	c.1975G>A	c.(1975-1977)Gga>Aga	p.G659R	FLNB_uc010hne.2_Missense_Mutation_p.G659R|FLNB_uc003djk.2_Missense_Mutation_p.G659R|FLNB_uc010hnf.2_Missense_Mutation_p.G659R|FLNB_uc003djl.2_Missense_Mutation_p.G490R|FLNB_uc003djm.2_Missense_Mutation_p.G490R	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	659					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAGAAATCTGGATGCATTGT	0.463000														30			12		0	0	0.002450	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234973	26234973	+	Silent	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:26234973A>T	uc003nhd.3	-	0	244	c.189T>A	c.(187-189)ctT>ctA	p.L63L		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	63	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCGCTTTCTTAAGCGCGGCCA	0.547000														245			50		0	0	0.003610	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212591	149212591	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149212591C>T	uc003lrc.3	+	4	1046	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P319S|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P280S|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P255S|PPARGC1B_uc003lre.1_Missense_Mutation_p.P298S|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P298S	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	319					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGCAGCAACCCCTCCCAGCA	0.627000														42			22		0	0	0.003330	0	0
MAS1L	116511	broad.mit.edu	37	6	29455262	29455262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29455262C>T	uc011dlq.2	-	0	418	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	140						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AACACGACTCCATGATAAGTT	0.507000														59			21		0	0	0.001882	0	0
CHODL	140578	broad.mit.edu	37	21	19629303	19629303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:19629303G>A	uc002ykv.3	+	2	797	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	CHODL_uc002ykr.3_Missense_Mutation_p.E95K|CHODL_uc002yks.3_Missense_Mutation_p.E95K|CHODL_uc021whr.1_Missense_Mutation_p.E95K|CHODL_uc002ykt.3_Missense_Mutation_p.E95K|CHODL_uc002yku.3_Missense_Mutation_p.E95K|CHODL_uc021whs.1_Missense_Mutation_p.E117K	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	136	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.E136*(2)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GTACACAGATGAACCTTCCTG	0.463000														40			21		0	0	0.001882	0	0
TTC21A	199223	broad.mit.edu	37	3	39152380	39152380	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:39152380G>A	uc003cjc.2	+	3	484	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TTC21A_uc003cja.3_Missense_Mutation_p.E103K|TTC21A_uc010hho.2_Missense_Mutation_p.E66K|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.E103K|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	103							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGCCTGAAGGAAATACGCAA	0.507000														35			17		0	0	0.006122	0	0
ERBB4	2066	broad.mit.edu	37	2	212483927	212483927	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:212483927G>A	uc002veg.1	-	18	2374	c.2276C>T	c.(2275-2277)cCc>cTc	p.P759L	ERBB4_uc002veh.1_Missense_Mutation_p.P759L|ERBB4_uc010zji.1_Missense_Mutation_p.P749L|ERBB4_uc010zjj.1_Missense_Mutation_p.P749L|ERBB4_uc010fut.1_Missense_Mutation_p.P759L	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.	759	Protein kinase.				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)		ATTTGCCTTGGGACCAGTTGT	0.368000										TSP Lung(8;0.080)				21			18		0	0	0.001882	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49364692	49364693	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:49364692_49364693GG>AA	uc002pkx.3	-	4	882_883	c.331_332CC>TT	c.(331-333)ccg>TTg	p.P111L	PLEKHA4_uc010eml.3_Missense_Mutation_p.P111L	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	111	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGGGCTCCCGGCCCATCTGGT	0.609000														50			34		0	0	0.004672	0	0
ZNF382	84911	broad.mit.edu	37	19	37101557	37101557	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:37101557C>T	uc002oek.3	+	3	258	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	ZNF382_uc010efa.3_5'UTR|ZNF382_uc010efb.3_Missense_Mutation_p.H48Y|ZNF382_uc002oel.3_Missense_Mutation_p.H49Y	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	49	KRAB.|Mediates interaction with TRIM28 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCAGGGTTTCACATGGCTAA	0.378000														61			17		0	0	0.001523	0	0
RTP4	64108	broad.mit.edu	37	3	187089093	187089093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:187089093C>T	uc003frm.3	+	1	735	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 4 (RTP4), mRNA.	225					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGACCCAGATCCACTGAACAT	0.428000														27			13		0	0	0.001855	0	0
CD163	9332	broad.mit.edu	37	12	7653749	7653749	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:7653749C>T	uc001qsz.3	-	2	571	c.443G>A	c.(442-444)gGa>gAa	p.G148E	CD163_uc001qta.3_Missense_Mutation_p.G148E|CD163_uc009zfw.2_Missense_Mutation_p.G148E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	148	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GCAGGTCACTCCAGCATCTTG	0.423000														105			56		0	0	0.003610	0	0
PLD2	5338	broad.mit.edu	37	17	4722875	4722875	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:4722875C>T	uc002fzc.3	+	22	2586	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	PLD2_uc002fzd.3_Intron	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	820					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	AGCACTGCTTCGGGTAGAGCT	0.617000														15			15		0	0	0.003163	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186792044	186792044	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:186792044C>T	uc003frb.3	+	6	1535	c.902C>T	c.(901-903)cCt>cTt	p.P301L	ST6GAL1_uc003frc.3_Missense_Mutation_p.P70L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P301L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	301					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCCAGATGCCTTGGGAGCTA	0.473000														103			33		0	0	0.005524	0	0
TRPM3	80036	broad.mit.edu	37	9	73230967	73230967	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:73230967G>A	uc004aid.3	-	16	2591	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	TRPM3_uc004ahu.3_Missense_Mutation_p.P613S|TRPM3_uc004ahv.3_Missense_Mutation_p.P585S|TRPM3_uc004ahw.3_Missense_Mutation_p.P655S|TRPM3_uc004ahx.3_Missense_Mutation_p.P642S|TRPM3_uc004ahy.3_Missense_Mutation_p.P645S|TRPM3_uc004ahz.3_Missense_Mutation_p.P632S|TRPM3_uc004aia.3_Missense_Mutation_p.P630S|TRPM3_uc004aib.3_Missense_Mutation_p.P620S|TRPM3_uc004aic.3_Missense_Mutation_p.P783S	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	808						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGAATTGAAGGAGGAAGTAGA	0.378000														21			7		0	0	0.001984	0	0
PRPF19	27339	broad.mit.edu	37	11	60668840	60668840	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:60668840C>T	uc001nqf.3	-	8	775	c.568_splice	c.e8-1	p.R190_splice		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	190					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AGTCTTCCCTCTCTGAGAAAA	0.557000														15			12		0	0	0.000978	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156380	70156380	+	Silent	SNP	G	A	A	rs143921369		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:70156380G>A	uc003hej.3	+	4	1163	c.1161G>A	c.(1159-1161)ggG>ggA	p.G387G	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	387					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G387G(2)|p.G387W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTACCATGGGATCCCTATGG	0.428000														93			61		0	0	0.003610	0	0
FAM113B	91523	broad.mit.edu	37	12	47630108	47630108	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:47630108G>A	uc001rpq.3	+	1	1787	c.1262G>A	c.(1261-1263)aGa>aAa	p.R421K	FAM113B_uc001rpn.3_Missense_Mutation_p.R421K|FAM113B_uc021qxi.1_Missense_Mutation_p.R421K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	421	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCTTCAAAGAGAAGGGCCCCA	0.562000														12			4		0	0	0.000248	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666346	84666346	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:84666346G>A	uc003uic.3	-	9	1090	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	SEMA3D_uc010led.3_Silent_p.S350S|SEMA3D_uc003uib.3_5'UTR	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	350	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						CTTTGAAGATGGAGCTGGAAA	0.398000														14			14		0	0	0.001855	0	0
SLC9C1	285335	broad.mit.edu	37	3	111997628	111997628	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:111997628A>T	uc003dyu.3	-	3	488	c.266T>A	c.(265-267)tTt>tAt	p.F89Y	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.F89Y	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	89					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGCAGTAGTAAAGAAAACTAC	0.318000														118			52		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89398703	89398703	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:89398703C>T	uc010upo.1	+	11	3261	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L	ACAN_uc010upp.1_Silent_p.L963L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	963					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGGAGAAGTTCTAGAGACCTC	0.567000														45			28		0	0	0.005443	0	0
PEX26	55670	broad.mit.edu	37	22	18568002	18568002	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:18568002C>T	uc002znp.4	+	4	1001	c.792C>T	c.(790-792)ctC>ctT	p.L264L	PEX26_uc002znt.3_Intron|PEX26_uc002znq.4_Silent_p.L264L	NM_017929	NP_060399	Q7Z412	PEX26_HUMAN	Homo sapiens peroxisomal biogenesis factor 26 (PEX26), transcript variant 1, mRNA.	264					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTCTGTCTCCTGGTGGTGA	0.562000														128			38		0	0	0.006999	0	0
LRRC34	151827	broad.mit.edu	37	3	169511529	169511529	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:169511529G>A	uc003ffy.3	-	10	1527	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	LRRC34_uc003ffx.3_Missense_Mutation_p.S398F	NM_001172779	NP_001166250	Q8IZ02	LRC34_HUMAN	Homo sapiens leucine rich repeat containing 34 (LRRC34), transcript variant 2, mRNA.	385										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGGCCATTGGAGACTTCTGC	0.388000														46			22		0	0	0.001882	0	0
CFTR	1080	broad.mit.edu	37	7	117182159	117182160	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:117182159_117182160GG>AA	uc003vjd.3	+	8	1338_1339	c.1206_1207GG>AA	c.(1204-1209)gaggag>gaAAag	p.E403K	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	403					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCTTCTGGGAGGAGGTCAGAAT	0.312000									Cystic Fibrosis					18			12		0	0	0.004672	0	0
INSR	3643	broad.mit.edu	37	19	7120643	7120643	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:7120643G>A	uc002mgd.1	-	19	3756	c.3647C>T	c.(3646-3648)tCt>tTt	p.S1216F	INSR_uc002mge.1_Missense_Mutation_p.S1204F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1216	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATGTCAGAAGAAGTGGTGAA	0.562000														102			64		0	0	0.003610	0	0
RSPO1	284654	broad.mit.edu	37	1	38078451	38078451	+	Silent	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:38078451T>C	uc001cbl.2	-	7	1660	c.768A>G	c.(766-768)ccA>ccG	p.P256P	RSPO1_uc009vvf.2_Silent_p.P229P|RSPO1_uc001cbm.2_Silent_p.P256P|RSPO1_uc009vvg.2_Silent_p.P193P	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	256					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGATGTGAGTGGCCCCACTG	0.602000														99			32		0	0	0.002096	0	0
NADK	65220	broad.mit.edu	37	1	1696731	1696731	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:1696731G>A	uc001aic.3	-	1	337	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	NADK_uc001aid.4_Missense_Mutation_p.R39W|NADK_uc001aie.3_Missense_Mutation_p.R39W|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	39					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCCCGGCCCCGGATGGGGTGG	0.577000														66			27		0	0	0.006320	0	0
HPCAL4	51440	broad.mit.edu	37	1	40148263	40148263	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:40148263G>A	uc001cdr.3	-	3	641	c.521C>T	c.(520-522)gCa>gTa	p.A174V	HPCAL4_uc010oix.2_Missense_Mutation_p.A102V	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	174	EF-hand 4.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-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;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTCTTGGCTGCCTCCTTGAA	0.567000														70			21		0	0	0.004656	0	0
OR2T27	403239	broad.mit.edu	37	1	248814064	248814064	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:248814064C>T	uc010pzo.2	-	0	122	c.122G>A	c.(121-123)aGc>aAc	p.S41N		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GACCACGTTGCTGGCTATGGA	0.522000														57			12		0	0	0.003163	0	0
TNXB	7148	broad.mit.edu	37	6	32065661	32065661	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32065661G>A	uc003nzl.2	-	1	517	c.315C>T	c.(313-315)gtC>gtT	p.V105V	TNXB_uc010jts.1_Silent_p.V104V|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	105					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTCTAGACGGACCCTCAGGG	0.612000														720			79		0	0	0.003610	0	0
MEP1A	4224	broad.mit.edu	37	6	46787396	46787396	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:46787396G>A	uc011dwh.1	+	5	603	c.595G>A	c.(595-597)Gac>Aac	p.D199N	MEP1A_uc010jzh.1_Missense_Mutation_p.D171N|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.D71N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	171	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.D171N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTCAAGGACGGACCGGGATGA	0.478000														311			50		0	0	0.003610	0	0
ATP1A4	480	broad.mit.edu	37	1	160151744	160151744	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:160151744C>T	uc001fve.4	+	19	3371	c.2892C>T	c.(2890-2892)atC>atT	p.I964I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I467I|ATP1A4_uc001fvh.3_Silent_p.I100I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	964					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TATTTGGGATCCTGGAGGAGA	0.522000														188			53		0	0	0.003610	0	0
ATP1A4	480	broad.mit.edu	37	1	160128877	160128877	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:160128877G>A	uc001fve.4	+	4	1090	c.611G>A	c.(610-612)gGa>gAa	p.G204E	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	204					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCAAGGGTGGAGACCGAGTC	0.512000														108			22		0	0	0.001882	0	0
EXOSC10	5394	broad.mit.edu	37	1	11141286	11141286	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:11141286G>A	uc001asa.3	-	10	1340	c.1290C>T	c.(1288-1290)ccC>ccT	p.P430P	EXOSC10_uc001asb.3_Silent_p.P430P|EXOSC10_uc009vmy.1_Silent_p.P430P	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	430					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCATCTCCTCGGGCAGAGGGC	0.532000														72			29		0	0	0.002096	0	0
C7orf50	84310	broad.mit.edu	37	7	1037314	1037314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:1037314G>A	uc003sju.2	-	4	602	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	C7orf50_uc011jvt.1_Missense_Mutation_p.P178S|C7orf50_uc011jvu.1_Missense_Mutation_p.P178S	NM_032350	NP_115726	Q9BRJ6	CG050_HUMAN	Homo sapiens chromosome 7 open reading frame 50 (C7orf50), transcript variant 1, mRNA.	178							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCCGGCAGGGGGGGATCAGAG	0.721000														34			33		0	0	0.002836	0	0
ERO1LB	56605	broad.mit.edu	37	1	236384259	236384259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:236384259C>T	uc001hxt.3	-	14	1472	c.1216G>A	c.(1216-1218)Ggt>Agt	p.G406S		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	406					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTCCTAAACCCTGAGTCTAA	0.333000														46			11		0	0	0.000978	0	0
GSDMC	56169	broad.mit.edu	37	8	130772813	130772813	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:130772813A>C	uc003ysr.3	-	5	1581	c.699T>G	c.(697-699)gaT>gaG	p.D233E		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	233						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTCTCTGTTCATCATCATCTG	0.373000														82			48		0	0	0.003610	0	0
BRD1	23774	broad.mit.edu	37	22	50216722	50216722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:50216722C>T	uc011arg.2	-	0	1258	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.S415N|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.S415N	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	415					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTTAACCGAGCTCTCTTTTCG	0.547000														213			60		0	0	0.003610	0	0
SMYD4	114826	broad.mit.edu	37	17	1690790	1690790	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:1690790G>A	uc002ftm.4	-	5	1814	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	SMYD4_uc002ftn.1_Missense_Mutation_p.S404F	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	549	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						GCTAATGAAGGACACGCTGGT	0.587000														3			4		0	0	0.000248	0	0
FLRT2	23768	broad.mit.edu	37	14	86088580	86088580	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:86088580C>T	uc021rxf.1	+	0	722	c.722C>T	c.(721-723)tCg>tTg	p.S241L	FLRT2_uc001xvr.3_Missense_Mutation_p.S241L|FLRT2_uc010atd.3_Missense_Mutation_p.S241L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	241					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTACGTAATTCGCTGTCCCAC	0.502000														32			28		0	0	0.004656	0	0
UCP2	7351	broad.mit.edu	37	11	73686070	73686070	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:73686070G>A	uc001oup.1	-	7	1292	c.912C>T	c.(910-912)tcC>tcT	p.S304S		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	304					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GAGCCTCTCGGGAAGTGCAGG	0.557000														7			6		0	0	0.001984	0	0
RGS20	8601	broad.mit.edu	37	8	54852200	54852200	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:54852200G>A	uc003xrp.3	+	2	667	c.575G>A	c.(574-576)gGc>gAc	p.G192D	RGS20_uc003xrq.3_Missense_Mutation_p.G77D|RGS20_uc010lye.3_Intron|RGS20_uc010lyf.3_Intron|RGS20_uc003xrs.3_Missense_Mutation_p.G45D|RGS20_uc003xrt.3_Intron	NM_170587	NP_733466	O76081	RGS20_HUMAN	Homo sapiens regulator of G-protein signaling 20 (RGS20), transcript variant 1, mRNA.	192					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			GACACACCAGGCGCCGCCCCA	0.667000														26			9		0	0	0.008291	0	0
NAV3	89795	broad.mit.edu	37	12	78516075	78516075	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:78516075C>T	uc001syp.3	+	15	4278	c.4105C>T	c.(4105-4107)Ctc>Ttc	p.L1369F	NAV3_uc001syo.3_Missense_Mutation_p.L1369F|NAV3_uc010sub.2_Missense_Mutation_p.L869F|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1369	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATGACTAGCCTCCACACGAG	0.567000										HNSCC(70;0.22)				48			31		0	0	0.001786	0	0
PRF1	5551	broad.mit.edu	37	10	72358711	72358712	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:72358711_72358712CC>TT	uc009xqg.3	-	2	926_927	c.765_766GG>AA	c.(763-768)gaggac>gaAAac	p.D256N	PRF1_uc001jrf.4_Missense_Mutation_p.D256N	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	256	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTCAGGCAGTCCTCCACCTCGT	0.619000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					22			10		0	0	0.004672	0	0
OR5H2	79310	broad.mit.edu	37	3	98002015	98002015	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:98002015G>A	uc003dsj.1	+	0	284	c.284G>A	c.(283-285)aGg>aAg	p.R95K		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCAAAAACAGGATGATATCT	0.373000														105			49		0	0	0.003610	0	0
COL1A1	1277	broad.mit.edu	37	17	48268227	48268227	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:48268227A>G	uc002iqm.3	-	32	2420	c.2294T>C	c.(2293-2295)cTg>cCg	p.L765P		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	765	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)	GGGGCCAGTCAGACCACGGAC	0.592000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							12			31		0	0	0.003755	0	0
STON2	85439	broad.mit.edu	37	14	81744729	81744729	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:81744729C>T	uc010tvu.2	-	3	1124	c.926G>A	c.(925-927)tGg>tAg	p.W309*	STON2_uc001xvk.1_Nonsense_Mutation_p.W309*|STON2_uc010tvt.2_Nonsense_Mutation_p.W106*	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	309					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGTTGCCCTCCAAGGTGAAGC	0.512000														49			36		0	0	0.003755	0	0
CRY1	1407	broad.mit.edu	37	12	107391385	107391385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:107391385G>A	uc001tmi.3	-	8	2232	c.1373C>T	c.(1372-1374)gCc>gTc	p.A458V		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	458	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CAAACATTTGGCTACCTTTTG	0.413000														60			16		0	0	0.006122	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384698	51384698	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:51384698A>G	uc001rxk.2	-	14	1592	c.1542T>C	c.(1540-1542)ctT>ctC	p.L514L	SLC11A2_uc001rxd.4_Silent_p.L334L|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.L485L|SLC11A2_uc001rxc.4_Silent_p.L485L|SLC11A2_uc001rxg.2_Silent_p.L98L|SLC11A2_uc010smx.2_Silent_p.L481L|SLC11A2_uc001rxh.2_Silent_p.L485L|SLC11A2_uc010smy.2_Silent_p.L448L|SLC11A2_uc001rxj.2_Silent_p.L485L|SLC11A2_uc001rxi.3_Silent_p.L485L	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	485					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AACAGATGATAAGGACCAAGA	0.463000														27			12		0	0	0.001855	0	0
CYTH3	9265	broad.mit.edu	37	7	6210259	6210259	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:6210259T>A	uc003spt.3	-	8	834	c.730A>T	c.(730-732)Aag>Tag	p.K244*	CYTH3_uc011jws.2_Nonsense_Mutation_p.K159*	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	244					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GGCTCGTTCTTAATGCTCTCA	0.582000														94			8		0	0	0.004482	0	0
LRP8	7804	broad.mit.edu	37	1	53729861	53729861	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:53729861G>A	uc001cvi.2	-	9	1872	c.1635C>T	c.(1633-1635)atC>atT	p.I545I	LRP8_uc001cvh.2_Silent_p.I98I|LRP8_uc001cvj.2_Silent_p.I545I|LRP8_uc001cvk.2_Silent_p.I375I|LRP8_uc001cvl.2_Silent_p.I416I|LRP8_uc001cvm.1_Silent_p.I130I	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	545					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGTCAACAGCGATGGCCCGGG	0.572000														15			16		0	0	0.003163	0	0
RIF1	55183	broad.mit.edu	37	2	152308153	152308153	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:152308153A>G	uc002txm.3	+	20	2439	c.2278A>G	c.(2278-2280)Att>Gtt	p.I760V	RIF1_uc010fnv.2_Missense_Mutation_p.I724V|RIF1_uc002txn.3_Missense_Mutation_p.I760V|RIF1_uc002txl.3_Missense_Mutation_p.I760V|RIF1_uc002txo.3_Missense_Mutation_p.I760V	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	760					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)		TATTTATATTATTACTGTAAT	0.303000														19			29		0	0	0.002096	0	0
TTI1	9675	broad.mit.edu	37	20	36640943	36640943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:36640943G>A	uc002xhl.3	-	2	1485	c.1276C>T	c.(1276-1278)Cag>Tag	p.Q426*	TTI1_uc002xhm.3_Nonsense_Mutation_p.Q426*	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	426							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAAAGCCGCTGGAGATGGGCC	0.458000														75			16		0	0	0.004990	0	0
SFMBT1	51460	broad.mit.edu	37	3	52955764	52955764	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:52955764G>A	uc003dgf.3	-	11	1838	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	SFMBT1_uc010hmr.3_Silent_p.T352T|SFMBT1_uc003dgg.3_Silent_p.T405T|SFMBT1_uc003dgh.3_Silent_p.T405T	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	405					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGCAGTGATGGTAGCAACAC	0.488000														161			60		0	0	0.003610	0	0
KDR	3791	broad.mit.edu	37	4	55976878	55976879	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:55976878_55976879CC>TT	uc003has.3	-	7	1335_1336	c.1033_1034GG>AA	c.(1033-1035)ggg>AAg	p.G345K	KDR_uc003hat.1_Missense_Mutation_p.G345K|KDR_uc011bzx.2_Missense_Mutation_p.G345K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	345	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GACACGCTCCCCCACCGTGGCT	0.416000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				179			41		0	0	0.004672	0	0
TGM7	116179	broad.mit.edu	37	15	43574782	43574782	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:43574782C>T	uc001zrf.1	-	7	1046	c.1041G>A	c.(1039-1041)cgG>cgA	p.R347R		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	347					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGAGATCTTTCCGGATCATCC	0.557000														3			6		0	0	0.003080	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143029	41143029	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:41143029C>T	uc002ici.1	+	4	1150	c.1138C>T	c.(1138-1140)Ccc>Tcc	p.P380S		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	380										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AGACTACTCTCCCTTGCTGAA	0.577000														16			23		0	0	0.001882	0	0
TEKT2	27285	broad.mit.edu	37	1	36553171	36553171	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:36553171C>A	uc001bzr.3	+	7	1114	c.987C>A	c.(985-987)ctC>ctA	p.L329L	TEKT2_uc001bzs.3_Silent_p.L235L|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	329				L -> F (in Ref. 1; AAC09343).	cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACGTGGAACTCTGCCGGGACC	0.617000														19			9		6.40141e-05	9.51804e-05	0.000978	1	0
ATP7A	538	broad.mit.edu	37	X	77300981	77300981	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:77300981A>G	uc004ecx.4	+	21	4298	c.4138A>G	c.(4138-4140)Att>Gtt	p.I1380V		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1380					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTTTATGCCCATTGGTTTGGT	0.343000														15			61		0	0	0.003610	0	0
PCDH9	5101	broad.mit.edu	37	13	66878807	66878807	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:66878807G>T	uc001vik.3	-	4	4386	c.3694C>A	c.(3694-3696)Cct>Act	p.P1232T	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.P1198T|PCDH9_uc010thl.2_Missense_Mutation_p.P1190T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1232					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGCTCCTTAGGACTCTCAGTA	0.423000														31			17		5.3912e-06	8.04515e-06	0.006122	1	0
TREML1	340205	broad.mit.edu	37	6	41121741	41121742	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41121741_41121742TC>GT	uc011duc.2	-	1	174_175	c.130_131GA>AC	c.(130-132)gat>ACt	p.D44T	TREML1_uc003opx.3_Missense_Mutation_p.D44T|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	44	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTTTGACATCCTGGAGCCTG	0.634000														71			11		0	0	0.004672	0	0
ZNF14	7561	broad.mit.edu	37	19	19822584	19822584	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:19822584G>A	uc002nnk.1	-	3	1660	c.1506C>T	c.(1504-1506)ccC>ccT	p.P502P		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TACATTCATAGGGTTTCTCTC	0.383000														38			25		0	0	0.003954	0	0
TNS1	7145	broad.mit.edu	37	2	218712399	218712399	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:218712399G>A	uc002vgt.2	-	16	2864	c.2466C>T	c.(2464-2466)ttC>ttT	p.F822F	TNS1_uc002vgr.2_Silent_p.F822F|TNS1_uc002vgs.2_Silent_p.F822F|TNS1_uc010zjv.1_Silent_p.F822F|TNS1_uc010fvj.1_Silent_p.F890F|TNS1_uc010fvk.1_Silent_p.F947F|TNS1_uc010fvi.1_Silent_p.F509F	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	822						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGTCGGAAGGAAGGCAGGCA	0.582000														26			20		0	0	0.007413	0	0
CCDC157	550631	broad.mit.edu	37	22	30766447	30766447	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:30766447C>T	uc011aku.2	+	4	1213	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	CCDC157_uc011akv.2_Nonsense_Mutation_p.Q185*	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	185										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CCAGACCTGCCAAGAGCCAGA	0.597000														8			30		0	0	0.001786	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263218	140263218	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140263218C>T	uc003lif.2	+	0	1365	c.1365C>T	c.(1363-1365)ttC>ttT	p.F455F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.F455F|PCDHAC2_uc003lid.3_Silent_p.F455F	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	469	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(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)			CGCCGGCGTTCGCGCAGCCCG	0.682000														91			19		0	0	0.008871	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529698	80529698	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:80529698C>T	uc021vjt.1	-	0	1247	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.G416D	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	416						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCGTGCTCGCCGCCTGGAAG	0.682000										HNSCC(69;0.2)				33			10		0	0	0.000978	0	0
SH2D7	646892	broad.mit.edu	37	15	78393523	78393523	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:78393523G>A	uc010blb.1	+	4	928	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	310										endometrium(2)|kidney(2)|lung(3)	7						GGGTCCCACAGAGTCTCCCAC	0.612000														9			5		0	0	0.000602	0	0
SLC50A1	55974	broad.mit.edu	37	1	155108417	155108417	+	Silent	SNP	C	G	G	rs141021704		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:155108417C>G	uc001fhj.4	+	0	130	c.30C>G	c.(28-30)ctC>ctG	p.L10L	SLC50A1_uc001fhk.4_5'UTR|SLC50A1_uc001fhl.4_Silent_p.L10L	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	10	MtN3/slv 1.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TGGACTCGCTCATTTACGGAG	0.662000														22			10		0	0	0.001368	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542791	133542791	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:133542791C>T	uc002ttp.3	-	13	1967	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	531							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGGCCTTTCCTTGGGATAAA	0.517000														54			51		0	0	0.003610	0	0
NRG1	3084	broad.mit.edu	37	8	32453407	32453407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:32453407C>T	uc003xiv.2	+	1	679	c.162C>T	c.(160-162)gtC>gtT	p.V54V	NRG1_uc022ats.1_Silent_p.V33V|NRG1_uc003xip.3_Silent_p.V269V|NRG1_uc003xir.3_Silent_p.V54V|NRG1_uc010lvl.3_Silent_p.V54V|NRG1_uc010lvm.3_Silent_p.V54V|NRG1_uc010lvn.3_Silent_p.V54V|NRG1_uc003xis.3_Silent_p.V54V|NRG1_uc011lbf.1_Silent_p.V54V|NRG1_uc010lvo.2_Silent_p.V54V|NRG1_uc003xiu.2_Silent_p.V54V|NRG1_uc003xiw.2_Silent_p.V54V|NRG1_uc003xit.2_Silent_p.V54V|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.V20V|NRG1_uc010lvq.2_Silent_p.V13V	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	54	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAACTAGTCCTTCGGTGTG	0.403000														101			29		0	0	0.002445	0	0
XIRP2	129446	broad.mit.edu	37	2	168100111	168100111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:168100111G>A	uc002udx.3	+	8	2298	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E562K|XIRP2_uc010fpq.3_Missense_Mutation_p.E515K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	562					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						AAAATGTTTCGAAACTCAACC	0.373000														19			13		0	0	0.002450	0	0
ADAM30	11085	broad.mit.edu	37	1	120437893	120437893	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:120437893C>T	uc001eij.3	-	0	1255	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	356	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AAGCCTACCCCTACATTGGCA	0.433000														535			207		0	0	0.003610	0	0
MYO16	23026	broad.mit.edu	37	13	109707909	109707909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:109707909C>T	uc010agk.2	+	26	3923	c.3301C>T	c.(3301-3303)Cct>Tct	p.P1101S	MYO16_uc001vqt.1_Missense_Mutation_p.P1079S|MYO16_uc001vqu.1_Missense_Mutation_p.P879S|MYO16_uc010tjh.1_Missense_Mutation_p.P591S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1079	Myosin head-like 2.				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)			ATATGGATACCCTGTTCGCCT	0.433000														61			41		0	0	0.003610	0	0
COL1A2	1278	broad.mit.edu	37	7	94051224	94051224	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:94051224T>G	uc003ung.1	+	38	2834	c.2363T>G	c.(2362-2364)tTc>tGc	p.F788C	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	788			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATGACTGGTTTCCCTGGTGCT	0.448000										HNSCC(75;0.22)				28			11		0	0	0.001368	0	0
OTUD4	54726	broad.mit.edu	37	4	146067531	146067531	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:146067531G>A	uc003ika.4	-	13	1253	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	436							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAAATAGTTAGATTCTCGACT	0.363000														31			24		0	0	0.006320	0	0
SOCS2	8835	broad.mit.edu	37	12	93968784	93968785	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:93968784_93968785CC>TT	uc001tcw.1	+	2	1016_1017	c.426_427CC>TT	c.(424-429)gccccc>gcTTcc	p.P143S	SOCS2_uc021rbx.1_Missense_Mutation_p.P143S|SOCS2_uc001tcy.1_Missense_Mutation_p.P143S|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	143	SH2.				JAK-STAT cascade|anti-apoptosis|growth hormone receptor signaling pathway|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|growth hormone receptor binding|insulin-like growth factor receptor binding|prolactin receptor binding			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						GTCCAGAAGCCCCCCGGAACGG	0.475000														37			13		0	0	0.004672	0	0
TOX	9760	broad.mit.edu	37	8	59720342	59720342	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:59720342C>T	uc003xtw.1	-	9	1766	c.1545_splice	c.e9-1	p.G515_splice		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	515						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTGCATGCCCCTGTAGGAAG	0.448000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			12		0	0	0.003163	0	0
FOXI2	399823	broad.mit.edu	37	10	129537088	129537088	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:129537088C>T	uc009yas.2	+	1	816	c.816C>T	c.(814-816)ttC>ttT	p.F272F	BC132944_uc009yar.1_5'Flank	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN	Homo sapiens forkhead box I2 (FOXI2), mRNA.	272					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ACTTTTCTTTCGGGAGGCGGC	0.716000														8			4		0	0	0.000248	0	0
CDX1	1044	broad.mit.edu	37	5	149563178	149563178	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149563178C>T	uc003lrq.3	+	2	829	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCCTGTGTCCCAGCAACAC	0.657000														19			15		0	0	0.001523	0	0
PRG4	10216	broad.mit.edu	37	1	186281959	186281959	+	Silent	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:186281959T>A	uc001gru.4	+	11	4101	c.4050T>A	c.(4048-4050)gtT>gtA	p.V1350V	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.V1309V|PRG4_uc009wyl.3_Silent_p.V1257V|PRG4_uc009wym.3_Silent_p.V1216V|PRG4_uc010poo.2_Non-coding_Transcript|TPR_uc001grv.3_3'UTR	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1350					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAATGTGGTTACCTCAGCTA	0.388000														76			32		0	0	0.002445	0	0
OR2A2	442361	broad.mit.edu	37	7	143807593	143807593	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:143807593G>A	uc011ktz.2	+	0	918	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CACTCCAGAGGAAGAGGTCCA	0.433000														37			34		0	0	0.002836	0	0
MTMR11	10903	broad.mit.edu	37	1	149906993	149906993	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:149906993G>A	uc001etl.4	-	4	605	c.354C>T	c.(352-354)ctC>ctT	p.L118L	MTMR11_uc001etm.2_Silent_p.L46L|MTMR11_uc010pbm.1_Silent_p.L90L|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	118							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			ACCCTGGACGGAGGAGCTGGA	0.547000														42			21		0	0	0.003330	0	0
ZNF496	84838	broad.mit.edu	37	1	247463992	247463992	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:247463992G>A	uc009xgv.3	-	7	1738	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	ZNF496_uc001ico.3_Silent_p.F531F	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	531					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGTGCCGCTGGAAGGCCTTCC	0.627000														38			88		0	0	0.003610	0	0
VPS13C	54832	broad.mit.edu	37	15	62217696	62217696	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:62217696T>C	uc002agz.3	-	52	6659	c.6568A>G	c.(6568-6570)Aag>Gag	p.K2190E	VPS13C_uc002aha.3_Missense_Mutation_p.K2147E|VPS13C_uc002ahb.2_Missense_Mutation_p.K2190E|VPS13C_uc002ahc.2_Missense_Mutation_p.K2147E	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2190					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATATTTTGCTTTCCTGAAGCC	0.284000														5			3		0	0	0.004672	0	0
SMCR8	140775	broad.mit.edu	37	17	18220793	18220793	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:18220793C>T	uc002gsy.4	+	0	2200	c.1690C>T	c.(1690-1692)Cca>Tca	p.P564S		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	564										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CATCAGTCCTCCAGAACTGGG	0.493000														64			37		0	0	0.005524	0	0
POLR1B	84172	broad.mit.edu	37	2	113315512	113315512	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:113315512C>T	uc002thw.2	+	7	1764	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	POLR1B_uc010fkn.2_Missense_Mutation_p.S339F|POLR1B_uc002thx.2_Missense_Mutation_p.S256F|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.S256F|POLR1B_uc010yxo.1_Missense_Mutation_p.S172F	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	395					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGGTTAGTGTCTATTAAAATA	0.353000														6			5		0	0	0.000602	0	0
BPI	671	broad.mit.edu	37	20	36932652	36932652	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:36932652G>A	uc002xib.2	+	0	101	c.39G>A	c.(37-39)ccG>ccA	p.P13P		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	13					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P13P(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCAACGCGCCGAGATGGGCGT	0.617000														116			22		0	0	0.003954	0	0
EML5	161436	broad.mit.edu	37	14	89131692	89131692	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:89131692C>T	uc021ryf.1	-	21	3515	c.3266G>A	c.(3265-3267)cGa>cAa	p.R1089Q	EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Missense_Mutation_p.R1089Q|EML5_uc001xxh.1_Missense_Mutation_p.R228Q	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1089						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGTGAAAATCGAATATCTGA	0.343000														11			8		0	0	0.003080	0	0
EFHB	151651	broad.mit.edu	37	3	19956846	19956846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:19956846C>T	uc003cbl.4	-	4	1433	c.1237G>A	c.(1237-1239)Gga>Aga	p.G413R	EFHB_uc003cbm.3_Missense_Mutation_p.G283R	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	413					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCTTCATTTCCTTCTTTAAAT	0.368000														52			22		0	0	0.003330	0	0
GPX5	2880	broad.mit.edu	37	6	28501753	28501753	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28501753C>T	uc003nll.2	+	4	477	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	159					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.H158N(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CTGTCCTCATCCCTCTGAGAT	0.463000														280			54		0	0	0.003610	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1893687	1893687	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:1893687C>T	uc003wpr.3	+	26	3441	c.3263C>T	c.(3262-3264)tCc>tTc	p.S1088F	ARHGEF10_uc003wps.3_Missense_Mutation_p.S1050F|ARHGEF10_uc010lre.3_Missense_Mutation_p.S739F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1113					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATGGTGATCTCCCACATGGCC	0.597000														9			3		0	0	0.004672	0	0
SCN9A	6335	broad.mit.edu	37	2	167142945	167142945	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:167142945C>T	uc010fpl.3	-	10	1844	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.S372S|SCN9A_uc002uds.1_Silent_p.S372S|SCN9A_uc002udt.1_Silent_p.S372S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	501				S -> P (in Ref. 3; AAT85835).		voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(2)		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)	ATTCTGATTTCGACAATTTCT	0.428000														46			47		0	0	0.003610	0	0
GABRG2	2566	broad.mit.edu	37	5	161580318	161580318	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:161580318C>T	uc010jjc.3	+	10	1850	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S	GABRG2_uc003lyy.4_Missense_Mutation_p.P458S|GABRG2_uc003lyz.4_Missense_Mutation_p.P450S|GABRG2_uc011dej.2_Missense_Mutation_p.P355S	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	450					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			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GATCTTCTTCCCCACTGCCTT	0.453000														155			100		0	0	0.003610	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111152	7111152	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:7111152C>T	uc001mfc.2	+	0	988	c.801C>T	c.(799-801)gaC>gaT	p.D267D		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	267	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.D267D(2)|p.R266H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGGTCGCGACCGTGACTACG	0.667000														14			7		0	0	0.003080	0	0
FOLH1	2346	broad.mit.edu	37	11	49168382	49168382	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:49168382C>G	uc001ngy.3	-	18	2440	c.2179G>C	c.(2179-2181)Gaa>Caa	p.E727Q	FOLH1_uc001ngx.3_Missense_Mutation_p.E126D|FOLH1_uc009yly.3_Missense_Mutation_p.E712Q|FOLH1_uc009ylz.3_Missense_Mutation_p.E681Q|FOLH1_uc001ngz.3_Missense_Mutation_p.E696Q|FOLH1_uc009yma.3_Missense_Mutation_p.E419Q	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	727					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTCTTCACTTCTCCCCAGGCC	0.463000														41			32		0	0	0.008361	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323156	61323156	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:61323156C>T	uc002lji.3	-	7	1052	c.908G>A	c.(907-909)gGa>gAa	p.G303E	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.G251E	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	303					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						ATCCACCATTCCCATGGTTCT	0.502000														46			25		0	0	0.008361	0	0
HLF	3131	broad.mit.edu	37	17	53342916	53342916	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:53342916C>T	uc002iug.1	+	0	596	c.71C>T	c.(70-72)tCc>tTc	p.S24F	HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	24					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						GTGCTCAGGTCCCTGCTGGAG	0.637000			T	TCF3	ALL									42			8		0	0	0.001368	0	0
MXRA5	25878	broad.mit.edu	37	X	3239522	3239522	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:3239522C>T	uc004crg.4	-	4	4361	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1402						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAAGATTTTCCCCAGAAGTG	0.507000														2			8		0	0	0.003080	0	0
POM121L12	285877	broad.mit.edu	37	7	53103702	53103702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:53103702C>T	uc003tpz.3	+	0	354	c.338C>T	c.(337-339)tCc>tTc	p.S113F		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	113										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGAGACCTCTCCTGTGCCTGG	0.721000														23			6		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9060867	9060867	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9060867G>A	uc002mkp.3	-	2	26783	c.26579C>T	c.(26578-26580)tCt>tTt	p.S8860F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8862	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						GGTTACTGCAGATAAAGACAC	0.517000														41			38		0	0	0.007835	0	0
PTBP2	58155	broad.mit.edu	37	1	97217021	97217021	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:97217021G>T	uc001drq.3	+	2	326	c.80G>T	c.(79-81)aGt>aTt	p.S27I	PTBP2_uc001drn.2_Missense_Mutation_p.S27I|PTBP2_uc001dro.2_Missense_Mutation_p.S27I|PTBP2_uc010otz.1_Missense_Mutation_p.S38I|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drr.3_Missense_Mutation_p.S27I|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Missense_Mutation_p.S27I	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	27							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTTCTCAGTAGTCCGAACTCT	0.348000														80			65		1.17597e-53	1.77178e-53	0.003610	1	0
OR5M10	390167	broad.mit.edu	37	11	56345099	56345099	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:56345099C>T	uc001niz.1	-	0	99	c.99G>A	c.(97-99)gcG>gcA	p.A33A	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTAGGTAGATCGCCAGGAACA	0.488000														372			106		0	0	0.003610	0	0
CRY1	1407	broad.mit.edu	37	12	107391350	107391350	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:107391350T>A	uc001tmi.3	-	8	2267	c.1408A>T	c.(1408-1410)Atg>Ttg	p.M470L		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	470	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TGGTTCACCATTGGTTTAGGA	0.403000														76			25		0	0	0.005443	0	0
CATSPERD	257062	broad.mit.edu	37	19	5746029	5746029	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:5746029C>T	uc002mda.3	+	8	824	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	255						integral to membrane											GAGAGGCATCCTGCTCCTATG	0.587000														64			69		0	0	0.003610	0	0
OR10J3	441911	broad.mit.edu	37	1	159283829	159283829	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159283829G>A	uc010piu.2	-	0	621	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V207V(2)|p.C206C(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GTAGAACAAGGACACAGACGC	0.478000														104			22		0	0	0.002299	0	0
PRIC285	85441	broad.mit.edu	37	20	62195450	62195450	+	Silent	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:62195450G>C	uc002yfm.2	-	8	5617	c.4725C>G	c.(4723-4725)ccC>ccG	p.P1575P	PRIC285_uc002yfl.1_Silent_p.P1006P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1575					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCAGTGACAGGGGCACCCGGT	0.711000														12			3		0	0	0.004672	0	0
LIX1L	128077	broad.mit.edu	37	1	145492310	145492310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:145492310C>T	uc001enr.3	+	2	606	c.532C>T	c.(532-534)Cct>Tct	p.P178S		NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN	Homo sapiens Lix1 homolog (mouse)-like (LIX1L), mRNA.	178										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAATGAACATCCTTCCCGAAG	0.478000														73			37		0	0	0.004878	0	0
FAT4	79633	broad.mit.edu	37	4	126411747	126411747	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:126411747C>T	uc003ifj.4	+	16	13770	c.13770C>T	c.(13768-13770)taC>taT	p.Y4590Y	FAT4_uc011cgp.2_Silent_p.Y2831Y|FAT4_uc003ifi.1_Silent_p.Y2067Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4590					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAAACCCCTACCTTATCTATG	0.473000														23			28		0	0	0.006320	0	0
ARAP1	116985	broad.mit.edu	37	11	72406094	72406094	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:72406094G>A	uc001osu.3	-	26	3814	c.3625C>T	c.(3625-3627)Cgc>Tgc	p.R1209C	ARAP1_uc001osv.3_Missense_Mutation_p.R1209C|ARAP1_uc001osr.3_Missense_Mutation_p.R969C|ARAP1_uc001oss.3_Missense_Mutation_p.R964C|ARAP1_uc009yth.3_Missense_Mutation_p.R903C|ARAP1_uc010rre.2_Missense_Mutation_p.R964C	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1209	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACGTTCCGGCGATCCAGGATC	0.612000														63			98		0	0	0.003610	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351405	89351405	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:89351405G>A	uc002fmx.1	-	8	2006	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	ANKRD11_uc002fmy.1_Silent_p.F515F|ANKRD11_uc002fnc.1_Silent_p.F515F|ANKRD11_uc002fnb.1_Silent_p.F472F	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	515	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGAGGGAGCTGAACAGGGAGG	0.647000														41			18		0	0	0.004990	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398924	90398924	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:90398924C>T	uc021opq.1	+	0	297	c.297C>T	c.(295-297)tcC>tcT	p.S99S	LRRC8D_uc001dnm.3_Silent_p.S99S|LRRC8D_uc001dnn.3_Silent_p.S99S	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	99						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		ACGACATTTCCTTTGGGACAT	0.498000														12			13		0	0	0.001368	0	0
NEB	4703	broad.mit.edu	37	2	152497159	152497159	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:152497159G>A	uc021vrb.1	-	58	8424	c.8395C>T	c.(8395-8397)Cgt>Tgt	p.R2799C	NEB_uc002txu.3_Missense_Mutation_p.R2799C|NEB_uc021vrc.1_Missense_Mutation_p.R2799C|NEB_uc010fnx.3_Missense_Mutation_p.R2799C|NEB_uc021vrd.1_Missense_Mutation_p.R2799C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2799					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGCTGCTTACGATAGCCTTCT	0.433000														43			22		0	0	0.001882	0	0
TRPV5	56302	broad.mit.edu	37	7	142606723	142606723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:142606723G>A	uc003wby.1	-	13	2092	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	610					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CACAGGCAGCGAGGCAGCTTC	0.597000														12			11		0	0	0.001368	0	0
ZNF454	285676	broad.mit.edu	37	5	178392003	178392003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:178392003C>T	uc003mjo.2	+	4	899	c.598C>T	c.(598-600)Cat>Tat	p.H200Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H200Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H200Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I199N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TCAGAAAATTCATAATGAAAA	0.343000														39			27		0	0	0.005443	0	0
BOC	91653	broad.mit.edu	37	3	113002451	113002451	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:113002451C>T	uc003dzx.3	+	15	3246	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	BOC_uc003dzy.3_Silent_p.F875F|BOC_uc003dzz.3_Silent_p.F876F|BOC_uc003eab.3_Silent_p.F576F|BOC_uc003eac.3_Silent_p.F190F	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	875					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TCATCCCCTTCTGCTTGTGGA	0.597000														51			23		0	0	0.003330	0	0
C8A	731	broad.mit.edu	37	1	57349320	57349320	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:57349320C>T	uc001cyo.2	+	5	953	c.821C>T	c.(820-822)tCa>tTa	p.S274L		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	274	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						CAAGACACTTCATTCTTGAAC	0.403000														18			9		0	0	0.000978	0	0
TAF1L	138474	broad.mit.edu	37	9	32631360	32631360	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:32631360G>A	uc003zrg.1	-	0	4308	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1406					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTCCAGGATGGATGACAGCG	0.448000														103			68		0	0	0.003610	0	0
OR8A1	390275	broad.mit.edu	37	11	124440145	124440146	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:124440145_124440146GG>AA	uc010san.2	+	0	181_182	c.181_182GG>AA	c.(181-183)ggc>AAc	p.G61N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGGGAACCTGGGCATGATCACT	0.500000														43			21		0	0	0.004672	0	0
TRIM31	11074	broad.mit.edu	37	6	30080314	30080314	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:30080314C>T	uc003npg.1	-	1	379	c.269G>A	c.(268-270)aGg>aAg	p.R90K	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	90						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						AGCCTCTTTCCTTTTGGACTG	0.493000														136			28		0	0	0.007291	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661478	133661478	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:133661478G>A	uc003eqa.4	-	10	1870	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	SLCO2A1_uc011blv.2_Silent_p.S351S	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	532					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GGGGGTTGTGGGAGATGCAGG	0.587000														35			17		0	0	0.004990	0	0
DNAH3	55567	broad.mit.edu	37	16	21071604	21071604	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:21071604C>T	uc010vbe.2	-	25	3794	c.3794G>A	c.(3793-3795)gGg>gAg	p.G1265E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1265	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCTTCAATCCCAAGTCCAAT	0.502000														73			46		0	0	0.003610	0	0
MEI1	150365	broad.mit.edu	37	22	42166716	42166716	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:42166716C>T	uc003baz.1	+	19	2320	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.F151F|MEI1_uc003bbc.1_Silent_p.F133F|MEI1_uc010gym.1_Silent_p.F133F|MEI1_uc003bbd.1_Silent_p.F8F	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	765							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCAGAAAATTCCTAGAAGGCA	0.488000														23			4		0	0	0.000248	0	0
KIF1B	23095	broad.mit.edu	37	1	10412779	10412779	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:10412779C>T	uc001aqx.4	+	37	4242	c.4040C>T	c.(4039-4041)tCc>tTc	p.S1347F	KIF1B_uc001aqw.4_Missense_Mutation_p.S1301F|KIF1B_uc001aqy.3_Missense_Mutation_p.S1321F|KIF1B_uc001aqz.3_Missense_Mutation_p.S1347F|KIF1B_uc001ara.3_Missense_Mutation_p.S1307F|KIF1B_uc001arb.3_Missense_Mutation_p.S1333F	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1347					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTGAAGTCTTCCCACAACTCT	0.458000														77			26		0	0	0.004656	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349732	103349732	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:103349732C>T	uc022cbz.1	-	0	209	c.209G>A	c.(208-210)tGg>tAg	p.W70*	SLC25A53_uc004elu.3_Nonsense_Mutation_p.W70*	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	70					transport	integral to membrane|mitochondrial inner membrane											ACCTTCATGCCAAAGCTGTCT	0.478000														6			21		0	0	0.001882	0	0
KCNC3	3748	broad.mit.edu	37	19	50827173	50827173	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:50827173G>A	uc002pru.1	-	1	1332	c.1037C>T	c.(1036-1038)cCc>cTc	p.P346L	KCNC3_uc002prt.1_5'UTR	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	346					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGTCAGGAAGGGCTCCGTCTC	0.587000														21			9		0	0	0.006214	0	0
JMY	133746	broad.mit.edu	37	5	78610468	78610468	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:78610468C>T	uc003kfx.4	+	8	3002	c.2453C>T	c.(2452-2454)cCc>cTc	p.P818L	JMY_uc003kfw.1_Missense_Mutation_p.P464L	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	818	Pro-rich.				'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ccacctcctccccctccccca	0.537000														14			25		0	0	0.004656	0	0
OR8G2	26492	broad.mit.edu	37	11	124095545	124095545	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:124095545G>A	uc010saf.2	+	0	148	c.148G>A	c.(148-150)Gtc>Atc	p.V50I		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	50						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AATCTATGTGGTCACAGTGGT	0.507000														55			37		0	0	0.006999	0	0
DNAH8	1769	broad.mit.edu	37	6	38840747	38840747	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:38840747G>A	uc021yzh.1	+	50	7412	c.7303G>A	c.(7303-7305)Gtt>Att	p.V2435I	DNAH8_uc003ooe.2_Missense_Mutation_p.V2218I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.V2218I(2)		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						CTTAAATTCCGTTTTGGATGA	0.383000														142			30		0	0	0.007291	0	0
FLT1	2321	broad.mit.edu	37	13	29012445	29012445	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:29012445G>A	uc001usb.3	-	3	711	c.426C>T	c.(424-426)atC>atT	p.I142I	FLT1_uc010aar.1_Silent_p.I142I|FLT1_uc001usc.3_Silent_p.I142I|FLT1_uc010tdp.1_Silent_p.I142I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	142					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TAATTTCGGGGATTTCACTGT	0.373000														26			9		0	0	0.008291	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347351	95347351	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:95347351G>A	uc010qnt.2	+	3	1175	c.1119G>A	c.(1117-1119)tcG>tcA	p.S373S	O3FAR1_uc010qnu.2_Silent_p.S357S	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	373					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						ATGACTTGTCGATTATTTCTG	0.418000														24			33		0	0	0.003755	0	0
CSMD3	114788	broad.mit.edu	37	8	113960098	113960098	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:113960098C>T	uc003ynu.3	-	8	1588	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	CSMD3_uc003ynt.3_Missense_Mutation_p.G437R|CSMD3_uc011lhx.2_Missense_Mutation_p.G373R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	477						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						TTAATACCTCCCTCATTTACT	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				86			8		0	0	0.004482	0	0
AEN	64782	broad.mit.edu	37	15	89169881	89169881	+	Silent	SNP	C	T	T	rs35195058	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:89169881C>T	uc002bmt.2	+	1	592	c.441C>T	c.(439-441)atC>atT	p.I147I	AEN_uc010bnl.2_Silent_p.I147I|AEN_uc010bnm.1_Silent_p.I147I	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	147	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ACAAGTACATCAGGCCTGAGA	0.607000														32			29		0	0	0.006320	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413888	61413888	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:61413888G>A	uc010qig.1	-	4	1345	c.896C>T	c.(895-897)gCt>gTt	p.A299V		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	299					urate metabolic process	integral to membrane|plasma membrane	symporter activity	p.A299A(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTTAAAAAGAGCCACAGTTTC	0.368000														33			30		0	0	0.007291	0	0
ULBP2	80328	broad.mit.edu	37	6	150266536	150266536	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:150266536G>A	uc003qno.3	+	1	250	c.177G>A	c.(175-177)aaG>aaA	p.K59K	ULBP2_uc011eeh.1_Silent_p.K59K|ULBP2_uc010kij.3_Silent_p.K59K	NM_025217	NP_079493	Q9BZM5	N2DL2_HUMAN	Homo sapiens UL16 binding protein 2 (ULBP2), mRNA.	59	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|cell surface|extracellular space	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGGATGAAAAGACTTTTCTTC	0.512000														43			37		0	0	0.002222	0	0
SLC9A7	84679	broad.mit.edu	37	X	46466519	46466519	+	Silent	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:46466519G>T	uc004dgu.1	-	16	2054	c.2046C>A	c.(2044-2046)tcC>tcA	p.S682S		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	682					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAGACTCGTGGAGGCGGTGT	0.597000														1			10		6.40141e-05	9.51804e-05	0.000978	1	0
MARCO	8685	broad.mit.edu	37	2	119732008	119732008	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:119732008G>A	uc002tln.1	+	4	692	c.560G>A	c.(559-561)gGa>gAa	p.G187E	MARCO_uc010yyf.1_Missense_Mutation_p.G109E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	187	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGACGAGATGGAGCAACAGGT	0.592000														10			10		0	0	0.006214	0	0
KIAA0528	9847	broad.mit.edu	37	12	22623806	22623806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:22623806G>A	uc010sit.2	-	21	2632	c.2404C>T	c.(2404-2406)Cag>Tag	p.Q802*	KIAA0528_uc010sir.2_Nonsense_Mutation_p.Q615*|KIAA0528_uc010sis.2_Nonsense_Mutation_p.Q800*|KIAA0528_uc001rfq.3_Nonsense_Mutation_p.Q800*|KIAA0528_uc010siu.2_Nonsense_Mutation_p.Q800*|KIAA0528_uc001rfr.3_Nonsense_Mutation_p.Q791*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	800							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTAAAGCCTGATTTTTGTCA	0.343000														23			25		0	0	0.004656	0	0
KIAA0319	9856	broad.mit.edu	37	6	24547559	24547559	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:24547559C>T	uc011djo.2	-	20	3553	c.3053G>A	c.(3052-3054)cGa>cAa	p.R1018Q	KIAA0319_uc011djp.2_Missense_Mutation_p.R973Q|KIAA0319_uc003neh.1_Missense_Mutation_p.R1018Q|KIAA0319_uc011djq.1_Missense_Mutation_p.R1009Q|KIAA0319_uc011djr.1_Missense_Mutation_p.R957Q|KIAA0319_uc010jpt.1_Missense_Mutation_p.R429Q	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	1018					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCTGTGCTTCGGTGCTTGAT	0.522000														24			13		0	0	0.001855	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821088	122821088	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:122821088G>A	uc003vkm.3	-	1	192	c.167C>T	c.(166-168)tCg>tTg	p.S56L	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	56						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AGCTGTTACCGACAGAGGCAA	0.428000														30			16		0	0	0.003163	0	0
CACNA1A	773	broad.mit.edu	37	19	13443705	13443705	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:13443705C>T	uc002mwy.3	-	8	1469	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	CACNA1A_uc010dzc.2_5'Flank|CACNA1A_uc010xnd.2_Silent_p.G411G|CACNA1A_uc021ups.1_Silent_p.G411G|CACNA1A_uc010xne.2_Silent_p.G411G|CACNA1A_uc010dze.2_Silent_p.G411G|CACNA1A_uc021upt.1_Silent_p.G411G	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	411					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCCTCTGCTCCCCGTCAGTTT	0.567000														16			8		0	0	0.006214	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560684	62560684	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:62560684C>T	uc002yhf.3	+	2	360	c.127C>T	c.(127-129)Cac>Tac	p.H43Y	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	43	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTGAAATATCACCCCGACAA	0.582000														21			7		0	0	0.001984	0	0
XPR1	9213	broad.mit.edu	37	1	180853152	180853152	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:180853152C>T	uc001goi.3	+	14	2233	c.2041C>T	c.(2041-2043)Cgt>Tgt	p.R681C	XPR1_uc009wxn.3_Missense_Mutation_p.R616C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	681						integral to plasma membrane	G-protein coupled receptor activity	p.R681C(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCCAAGGCTCGTGACACTAA	0.378000														69			22		0	0	0.003330	0	0
SHANK2	22941	broad.mit.edu	37	11	70336491	70336491	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:70336491G>A	uc001oqc.3	-	19	2354	c.2242_splice	c.e19-1	p.S748_splice	SHANK2_uc010rqn.2_Splice_Site_p.S224_splice|SHANK2_uc001opz.3_Splice_Site_p.S219_splice|BC127192_uc009ysn.1_Intron|SHANK2_uc010rqp.1_Splice_Site_p.S216_splice|SHANK2_uc001opy.3_Splice_Site|SHANK2_uc010rqo.1_Splice_Site_p.S27_splice	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	435					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTCGTACACAGACTGCAAACC	0.622000														271			26		0	0	0.008361	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423481	26423481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:26423481G>A	uc011dkl.1	+	1	430	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		CTGCAATGAGGCCATCCTGCA	0.512000														85			10		0	0	0.000978	0	0
PRDM14	63978	broad.mit.edu	37	8	70980503	70980503	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:70980503C>T	uc003xym.3	-	3	1076	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	292	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GTCTTCACTTCACTGGCATTG	0.493000														120			19		0	0	0.008871	0	0
PC	5091	broad.mit.edu	37	11	66617702	66617702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:66617702C>T	uc001ojn.1	-	16	2756	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	PC_uc001ojo.1_Missense_Mutation_p.D903N|PC_uc001ojp.1_Missense_Mutation_p.D903N	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	903					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TTGATGAGATCGCCCAGCATC	0.617000														41			21		0	0	0.002299	0	0
INTS1	26173	broad.mit.edu	37	7	1522326	1522326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:1522326G>A	uc003skn.2	-	26	3660	c.3559C>T	c.(3559-3561)Cag>Tag	p.Q1187*	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1187					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGCAGCGCCTGGAACTCGCTG	0.647000														251			26		0	0	0.007291	0	0
C7	730	broad.mit.edu	37	5	40945459	40945459	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:40945459C>T	uc003jmh.3	+	6	841	c.727C>T	c.(727-729)Cat>Tat	p.H243Y	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	243	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CAATGAAATCCATAAAGGAAA	0.323000														47			20		0	0	0.002299	0	0
SRRM2	23524	broad.mit.edu	37	16	2817499	2817499	+	Missense_Mutation	SNP	C	T	T	rs61747731		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2817499C>T	uc002crk.3	+	10	7519	c.6970C>T	c.(6970-6972)Ccc>Tcc	p.P2324S	SRRM2_uc002crj.1_Missense_Mutation_p.P2228S|SRRM2_uc002crl.1_Missense_Mutation_p.P2324S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2228S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2324	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGCAAACTATCCCTCCAGCTC	0.602000														84			65		0	0	0.003610	0	0
HSF2	3298	broad.mit.edu	37	6	122743417	122743417	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:122743417T>G	uc003pyu.2	+	7	991	c.804T>G	c.(802-804)aaT>aaG	p.N268K	HSF2_uc003pyv.2_Missense_Mutation_p.N268K	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	268					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGAAACTAATGAGGATGTTA	0.308000														96			60		0	0	0.003610	0	0
DES	1674	broad.mit.edu	37	2	220285356	220285356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:220285356C>T	uc002vll.3	+	3	961	c.875C>T	c.(874-876)gCt>gTt	p.A292V		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	292	Linker 2.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton	p.E291K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATTTCTGAAGCTGAGGAGTGG	0.592000														23			12		0	0	0.001855	0	0
TNFRSF8	943	broad.mit.edu	37	1	12175783	12175783	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:12175783C>T	uc001atq.3	+	7	1165	c.943C>T	c.(943-945)Cag>Tag	p.Q315*	TNFRSF8_uc010obc.2_Nonsense_Mutation_p.Q204*	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	315					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAAGCCCCAGGGTAAGCA	0.622000														17			9		0	0	0.008291	0	0
MGRN1	23295	broad.mit.edu	37	16	4701967	4701967	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:4701967C>T	uc002cxa.3	+	2	348	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	MGRN1_uc002cwz.3_Missense_Mutation_p.P71S|MGRN1_uc010uxo.2_Missense_Mutation_p.P71S|MGRN1_uc010uxp.2_Missense_Mutation_p.P71S|MGRN1_uc010btw.3_Missense_Mutation_p.P71S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	71					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTCCTAGTTTCCCTACGTCAC	0.612000														40			13		0	0	0.004990	0	0
COL25A1	84570	broad.mit.edu	37	4	109765723	109765723	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:109765723G>A	uc021xqo.1	-	28	1637	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	COL25A1_uc003hze.1_Silent_p.I527I|COL25A1_uc021xqp.1_Silent_p.I527I|COL25A1_uc003hzg.3_Silent_p.I527I|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Silent_p.I285I	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	527						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gtgggcctATGATCTGTATGT	0.438000														35			26		0	0	0.006320	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370480	35370481	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:35370480_35370481GG>AA	uc001byc.3	-	0	504_505	c.504_505CC>TT	c.(502-507)agccgc>agTTgc	p.R169C		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	169					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.S168R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TGCCGGATGCGGCTAGGGCTCT	0.668000														32			11		0	0	0.004672	0	0
C12orf63	374467	broad.mit.edu	37	12	97078989	97078989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:97078989G>A	uc021rcc.1	+	8	1340	c.1262G>A	c.(1261-1263)gGa>gAa	p.G421E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	421										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGTTTGCAAGGAGCAGTCATA	0.507000														44			16		0	0	0.008871	0	0
ZNF446	55663	broad.mit.edu	37	19	58988866	58988866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:58988866C>T	uc002qsz.3	+	1	398	c.281C>T	c.(280-282)cCt>cTt	p.P94L	ZNF446_uc002qta.3_Missense_Mutation_p.P94L|ZNF446_uc010eur.3_Missense_Mutation_p.P94L	NM_017908	NP_060378	Q9NWS9	ZN446_HUMAN	Homo sapiens zinc finger protein 446 (ZNF446), mRNA.	94	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCAGGCAGTCCTGAGGAGGCC	0.637000														45			6		0	0	0.001168	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561714	11561714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:11561714G>A	uc001ash.4	+	1	803	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PTCHD2_uc001asi.1_Missense_Mutation_p.R222Q	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	222					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.R439Q(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAAGACCCGCGAAACCAGCGG	0.692000														19			5		0	0	0.001168	0	0
FAM21B	55747	broad.mit.edu	37	10	47909783	47909783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:47909783C>T	uc009xni.3	+	10	880	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S	FAM21B_uc001jep.4_Missense_Mutation_p.P189S	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	294					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CACGGAAGCCCCCCAGGATCG	0.493000														1			4		0	0	0.003163	0	0
SYNE1	23345	broad.mit.edu	37	6	152725395	152725395	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:152725395C>A	uc021zhb.1	-	43	7001	c.6778G>T	c.(6778-6780)Gat>Tat	p.D2260Y	SYNE1_uc003qot.4_Missense_Mutation_p.D2267Y|SYNE1_uc003qou.4_Missense_Mutation_p.D2260Y|SYNE1_uc010kjb.1_Missense_Mutation_p.D2243Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2260					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)		TCTTTCAGATCATTAACTTTG	0.338000										HNSCC(10;0.0054)				46			23		1.5548e-18	2.33398e-18	0.005443	1	0
C11orf63	79864	broad.mit.edu	37	11	122817290	122817290	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:122817290A>G	uc001pym.3	+	5	2016	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	573										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGCATCAGCAAGCCTTGGTGC	0.488000														2			27		0	0	0.003954	0	0
VARS	7407	broad.mit.edu	37	6	31746792	31746792	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31746792G>A	uc003nxe.3	-	28	4101	c.3678C>T	c.(3676-3678)ggC>ggT	p.G1226G	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.G163G	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1226					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.S1225L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGACAGGATAGCCCGAGGCAG	0.647000														532			56		0	0	0.003610	0	0
NCOA6	23054	broad.mit.edu	37	20	33345249	33345250	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:33345249_33345250GG>AA	uc002xav.3	-	7	3872_3873	c.1301_1302CC>TT	c.(1300-1302)tcc>tTT	p.S434F	NCOA6_uc002xaw.3_Missense_Mutation_p.S434F|NCOA6_uc021wcd.1_Missense_Mutation_p.S434F|NCOA6_uc021wce.1_Missense_Mutation_p.S434F|NCOA6_uc021wcf.1_Missense_Mutation_p.S434F|NCOA6_uc010gew.1_Missense_Mutation_p.S391F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	434	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGCTGGAAGGAGGAGGGTGA	0.584000														63			16		0	0	0.004672	0	0
FASTKD5	60493	broad.mit.edu	37	20	3127866	3127866	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3127866C>T	uc021vzx.1	-	0	1851	c.1851G>A	c.(1849-1851)agG>agA	p.R617R	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.R617R	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	617					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CATGCTCAAGCCTTAATTTGG	0.438000														120			32		0	0	0.002096	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322240	67322240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:67322240C>T	uc010cef.3	+	19	3690	c.3391C>T	c.(3391-3393)Ccc>Tcc	p.P1131S	PLEKHG4_uc002eso.4_Missense_Mutation_p.P1131S|PLEKHG4_uc002esp.4_Missense_Mutation_p.P938S|PLEKHG4_uc002esq.4_Missense_Mutation_p.P1131S|PLEKHG4_uc002ess.4_Missense_Mutation_p.P1131S|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P1050S	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	1131					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCCCTGTATCCCAGCTTCCC	0.627000														56			25		0	0	0.003330	0	0
OR10H5	284433	broad.mit.edu	37	19	15905792	15905792	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:15905792C>T	uc010xos.2	+	0	934	c.934C>T	c.(934-936)Cca>Tca	p.P312S		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CAAACTCTTTCCACAGAACTG	0.488000														9			10		0	0	0.008291	0	0
PLOD1	5351	broad.mit.edu	37	1	12017929	12017929	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:12017929C>T	uc010obb.2	+	8	1026	c.913C>T	c.(913-915)Ccg>Tcg	p.P305S	PLOD1_uc001atm.3_Missense_Mutation_p.P258S	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	258					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	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-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CAACTACATCCCGCGCTTCTG	0.627000														77			16		0	0	0.001882	0	0
APPL2	55198	broad.mit.edu	37	12	105591619	105591619	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:105591619C>T	uc010swu.1	-	10	1212	c.994G>A	c.(994-996)Gac>Aac	p.D332N	APPL2_uc010swt.2_Missense_Mutation_p.D283N|APPL2_uc001tlf.1_Missense_Mutation_p.D326N|APPL2_uc001tlg.1_Missense_Mutation_p.D80N|APPL2_uc009zuq.3_Missense_Mutation_p.D283N	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	326	PH.|Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGCAGTTGTCCAGGTCCTGG	0.552000														48			17		0	0	0.004990	0	0
CAMLG	819	broad.mit.edu	37	5	134076819	134076819	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:134076819C>T	uc003kzt.3	+	1	380	c.239C>T	c.(238-240)tCc>tTc	p.S80F	CAMLG_uc003kzu.3_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	Homo sapiens calcium modulating ligand (CAMLG), mRNA.	80					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGCGTTCCTTCCGTTTCAAAG	0.453000														54			36		0	0	0.005524	0	0
DPCD	25911	broad.mit.edu	37	10	103348032	103348032	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:103348032G>A	uc010qpz.2	+	3	877	c.449G>A	c.(448-450)gGa>gAa	p.G150E	POLL_uc001ktg.1_5'Flank|POLL_uc001kth.1_5'Flank|POLL_uc001ktj.2_5'Flank|POLL_uc010qqb.2_5'Flank|POLL_uc001ktf.3_5'Flank|POLL_uc001kti.2_5'Flank|POLL_uc001ktl.3_5'Flank|POLL_uc001ktm.3_5'Flank|POLL_uc010qqc.2_5'Flank|POLL_uc010qqa.2_5'Flank|POLL_uc010qqd.2_5'Flank|DPCD_uc001ktn.3_5'Flank			Q9BVM2	DPCD_HUMAN	SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ57512;	0							protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GAGTCAGCCGGAAGTGACCCT	0.627000														2			6		0	0	0.001168	0	0
PTGES2	80142	broad.mit.edu	37	9	130883435	130883435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:130883435G>A	uc004bti.3	-	6	1601	c.1123C>T	c.(1123-1125)Cca>Tca	p.P375S	LOC100289019_uc004btg.1_5'Flank|PTGES2_uc004btk.3_Missense_Mutation_p.P184S|PTGES2_uc004btl.3_Missense_Mutation_p.P184S	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	375	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CAGTGCGCTGGGGAGGCCTCG	0.672000														5			5		0	0	0.003080	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676382	65676382	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:65676382C>T	uc002aou.1	-	19	3928	c.3718G>A	c.(3718-3720)Ggc>Agc	p.G1240S	IGDCC4_uc002aot.1_Missense_Mutation_p.G828S	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1240						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGCAGGCCTGGGCTGGCT	0.622000														24			10		0	0	0.002450	0	0
UNC79	57578	broad.mit.edu	37	14	94063734	94063734	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:94063734C>T	uc001ybv.1	+	20	2772	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	UNC79_uc001ybs.1_Silent_p.L897L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1074						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTGTAGATTTCTGGATATTCA	0.438000														32			15		0	0	0.004990	0	0
CXCR1	3577	broad.mit.edu	37	2	219029795	219029795	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:219029795G>A	uc021vwq.1	-	0	140	c.140C>T	c.(139-141)gCc>gTc	p.A47V	CXCR1_uc002vhc.3_Missense_Mutation_p.A47V	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	47					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GAACACTAGGGCATAGGCGAT	0.507000														68			43		0	0	0.008740	0	0
ZNF91	7644	broad.mit.edu	37	19	23543137	23543137	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:23543137A>C	uc002nre.3	-	3	2757	c.2644T>G	c.(2644-2646)Tcc>Gcc	p.S882A	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.S850A	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	882						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TCACTCTTGGAAGGTTTCTCT	0.358000														16			11		0	0	0.000978	0	0
PLCB1	23236	broad.mit.edu	37	20	8678295	8678295	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:8678295C>T	uc002wnb.3	+	10	1035	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	PLCB1_uc010zrb.1_Silent_p.S243S|PLCB1_uc002wna.3_Silent_p.S344S|PLCB1_uc002wnc.1_Silent_p.S243S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	344	PI-PLC X-box.				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						CTGGAAACTCCTCTGTTGAGA	0.522000														135			34		0	0	0.004289	0	0
FGD3	89846	broad.mit.edu	37	9	95738957	95738957	+	Missense_Mutation	SNP	C	T	T	rs71496423		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:95738957C>T	uc004asz.2	+	2	947	c.419C>T	c.(418-420)cCc>cTc	p.P140L	FGD3_uc004asw.2_Missense_Mutation_p.P140L|FGD3_uc004asx.2_Missense_Mutation_p.P140L	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	140					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGAACACCCCCCAGAAGGCT	0.647000														12			12		0	0	0.002450	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590155	590155	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:590155G>A	uc003siu.2	-	10	1191	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	PRKAR1B_uc021zyi.1_Missense_Mutation_p.P353L|PRKAR1B_uc003siv.3_Missense_Mutation_p.P353L|PRKAR1B_uc021zyj.1_Missense_Mutation_p.P353L|PRKAR1B_uc021zyk.1_Missense_Mutation_p.P353L|PRKAR1B_uc003siw.2_Missense_Mutation_p.P353L	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	353					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTCGAAGCGGGGCCGGTCCAG	0.642000														13			8		0	0	0.003080	0	0
RIPK3	11035	broad.mit.edu	37	14	24808511	24808511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:24808511C>T	uc001wpb.3	-	2	391	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.V61I	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	61	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		ATGGCCTTGACCTCCCTGGAT	0.582000														38			30		0	0	0.002445	0	0
RASD2	23551	broad.mit.edu	37	22	35947656	35947656	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:35947656G>A	uc003anx.3	+	2	583	c.378G>A	c.(376-378)aaG>aaA	p.K126K	RASD2_uc003any.3_Silent_p.K126K	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	126					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TGAAGAACAAGACCAAGGAGG	0.607000														129			18		0	0	0.006122	0	0
KLB	152831	broad.mit.edu	37	4	39409047	39409047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:39409047C>T	uc003gua.3	+	0	575	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	KLB_uc011byj.2_Missense_Mutation_p.P160S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	160	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AAGGCTTTTCCCCGATGGAAT	0.383000														130			56		0	0	0.003610	0	0
RNF216	54476	broad.mit.edu	37	7	5764962	5764962	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:5764962A>T	uc003sox.2	-	7	1756	c.1497T>A	c.(1495-1497)ttT>ttA	p.F499L	RNF216_uc010ksz.2_Missense_Mutation_p.F64L|RNF216_uc010kta.2_Missense_Mutation_p.F64L|RNF216_uc003soy.2_Missense_Mutation_p.F442L|RNF216_uc011jwj.2_Missense_Mutation_p.F64L	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	442					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TACCTTGTTCAAACTTGAAAT	0.423000														246			12		0	0	0.001368	0	0
FAM83A	84985	broad.mit.edu	37	8	124195459	124195459	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:124195459G>A	uc003ypv.3	+	1	2377	c.363G>A	c.(361-363)tgG>tgA	p.W121*	FAM83A_uc003ypw.3_Nonsense_Mutation_p.W121*|U3_uc022bai.1_5'Flank|FAM83A_uc003ypx.3_Nonsense_Mutation_p.W121*|FAM83A_uc003ypy.3_Nonsense_Mutation_p.W121*|FAM83A_uc003ypz.3_Nonsense_Mutation_p.W121*	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	121										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCACAGCTGGGCCTCAGCTG	0.612000														119			27		0	0	0.001786	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:105924152G>A	uc002tcq.3	-	1	691	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P203S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCAGTAGGGAAACAGGTCC	0.607000														61			48		0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47831715	47831715	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:47831715C>T	uc002zji.4	+	27	5835	c.5728C>T	c.(5728-5730)Ctg>Ttg	p.L1910L	PCNT_uc002zjj.3_Silent_p.L1792L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1910					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCAGCAGCCCCTGGCAGCCGG	0.726000														3			3		0	0	0.000248	0	0
SYT6	148281	broad.mit.edu	37	1	114636410	114636410	+	Nonstop_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:114636410A>C	uc021osa.1	-	6	1609	c.1531T>G	c.(1531-1533)Tga>Gga	p.*511G	SYT6_uc021orz.1_Nonstop_Mutation_p.*426G|SYT6_uc001eev.3_Nonstop_Mutation_p.*426G|SYT6_uc001eeu.3_Intron	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	0					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGAAATCACAACCGAGGG	0.453000														79			33		0	0	0.003271	0	0
DHX34	9704	broad.mit.edu	37	19	47884494	47884495	+	Missense_Mutation	DNP	CA	AC	AC			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:47884494_47884495CA>AC	uc010xyn.2	+	15	3560_3561	c.3211_3212CA>AC	c.(3211-3213)cac>ACc	p.H1071T	DHX34_uc010xyo.1_Missense_Mutation_p.H200T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	1071						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GACCTGCCCCCACTGTGGCCTG	0.668000														23			17		0	0	0.004672	0	0
STAB2	55576	broad.mit.edu	37	12	104014257	104014257	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:104014257G>A	uc001tjw.3	+	3	529	c.343G>A	c.(343-345)Gga>Aga	p.G115R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	115	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGCCCAGGTGGAGCGGGGTC	0.488000														8			5		0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26423583	26423583	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:26423583C>A	uc003abz.1	+	42	7893	c.7643C>A	c.(7642-7644)cCa>cAa	p.P2548Q	MYO18B_uc003aca.1_Missense_Mutation_p.P2429Q|MYO18B_uc010guy.1_Missense_Mutation_p.P2430Q|MYO18B_uc010guz.1_Missense_Mutation_p.P2428Q|MYO18B_uc011aka.1_Missense_Mutation_p.P1702Q|MYO18B_uc011akb.1_Missense_Mutation_p.P2061Q|MYO18B_uc010gva.1_Missense_Mutation_p.P531Q|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2548						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGAGAGAGCCAGGGACGGGG	0.542000														2			10		0.000442599	0.00065749	0.006214	1	0
SLC35D3	340146	broad.mit.edu	37	6	137245365	137245365	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:137245365T>G	uc003qhe.3	+	1	947	c.782T>G	c.(781-783)gTg>gGg	p.V261G		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	261					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GTGGGTGTGGTGAAGAGCATC	0.607000														16			5		0	0	0.000602	0	0
R3HDM2	22864	broad.mit.edu	37	12	57663588	57663588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:57663588G>A	uc009zpm.1	-	12	1527	c.1492C>T	c.(1492-1494)Cca>Tca	p.P498S	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.P193S|R3HDM2_uc001snr.2_Missense_Mutation_p.P225S|R3HDM2_uc001sns.2_Missense_Mutation_p.P498S|R3HDM2_uc001snt.2_Missense_Mutation_p.P512S	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	498	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGAGTAGGTGGTGCATGGCTA	0.547000														48			21		0	0	0.001882	0	0
WNK1	65125	broad.mit.edu	37	12	994852	994853	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:994852_994853CC>TT	uc021qss.1	+	18	6305_6306	c.5662_5663CC>TT	c.(5662-5664)ccc>TTc	p.P1888F	WNK1_uc001qio.4_Missense_Mutation_p.P1628F|WNK1_uc021qst.1_Missense_Mutation_p.P1880F|WNK1_uc001qip.4_Missense_Mutation_p.P1381F|WNK1_uc001qir.4_Missense_Mutation_p.P801F	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1628					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			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)			AGCTTTGCTTCCCAACCAGCCC	0.475000														51			24		0	0	0.004672	0	0
CDH6	1004	broad.mit.edu	37	5	31305295	31305295	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:31305295A>G	uc003jhe.2	+	6	1374	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E	CDH6_uc003jhd.2_Silent_p.E338E	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	338	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGACTTTGAAAAGAAGAAAG	0.433000														87			23		0	0	0.003954	0	0
PAPSS1	9061	broad.mit.edu	37	4	108603283	108603283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:108603283G>A	uc003hyk.3	-	4	641	c.557C>T	c.(556-558)aCt>aTt	p.T186I	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	186					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ATCGATCCCAGTGAAACCTGC	0.383000														57			35		0	0	0.005524	0	0
C12orf59	120939	broad.mit.edu	37	12	10339122	10339122	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:10339122C>T	uc001qxr.3	+	3	858	c.241C>T	c.(241-243)Cca>Tca	p.P81S	C12orf59_uc001qxq.3_Missense_Mutation_p.P61S			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	81						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						AGATGGGGGCCCACCACCCTG	0.562000														38			29		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9077817	9077817	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9077817C>T	uc002mkp.3	-	2	9833	c.9629G>A	c.(9628-9630)aGc>aAc	p.S3210N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3211	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						TTCCTTGGAGCTCATGATTTT	0.468000														55			55		0	0	0.003610	0	0
PARP8	79668	broad.mit.edu	37	5	50118184	50118184	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:50118184C>T	uc003jon.4	+	17	1992	c.1810C>T	c.(1810-1812)Cga>Tga	p.R604*	PARP8_uc011cpz.2_Nonsense_Mutation_p.R496*|PARP8_uc003joo.3_Nonsense_Mutation_p.R604*|PARP8_uc003jop.3_Nonsense_Mutation_p.R562*	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	604						intracellular	NAD+ ADP-ribosyltransferase activity	p.R604Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAACTATGATCGAGTAATGAA	0.303000														112			48		0	0	0.003610	0	0
FBXO8	26269	broad.mit.edu	37	4	175184040	175184040	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:175184040G>A	uc003itp.3	-	1	1054	c.204C>T	c.(202-204)ttC>ttT	p.F68F	FBXO8_uc003itq.3_Intron	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	68	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	p.F68F(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CCAAATTAATGAATCCTTCCT	0.418000														53			29		0	0	0.007291	0	0
ZNF90	7643	broad.mit.edu	37	19	20235900	20235900	+	RNA	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:20235900G>A	uc021url.1	+	2		c.324G>A						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCGGACGCAAGAAGACAGCCA	0.622000														2			6		0	0	0.001168	0	0
ICK	22858	broad.mit.edu	37	6	52874239	52874239	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:52874239G>A	uc003pbh.2	-	12	2109	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	ICK_uc003pbi.2_Missense_Mutation_p.S540L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	540					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTACTCACCTGAATTTACTTT	0.448000														145			21		0	0	0.002780	0	0
SCN1A	6323	broad.mit.edu	37	2	166848354	166848354	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:166848354C>T	uc002udo.4	-	27	5658	c.5431G>A	c.(5431-5433)Gtt>Att	p.V1811I	SCN1A_uc010fpk.3_Missense_Mutation_p.V1783I|SCN1A_uc021vsb.1_Missense_Mutation_p.V1800I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1811						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Q1810E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTCTCCCAAACCTCATAGAAC	0.463000														54			35		0	0	0.004289	0	0
NAV3	89795	broad.mit.edu	37	12	78604241	78604241	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:78604241G>A	uc001syp.3	+	39	7275	c.7102G>A	c.(7102-7104)Gaa>Aaa	p.E2368K	NAV3_uc001syo.3_Missense_Mutation_p.E2346K|NAV3_uc010sub.2_Missense_Mutation_p.E1825K|NAV3_uc009zsf.3_Missense_Mutation_p.E1177K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2368						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCGACAGCGAAAGCACCAG	0.388000										HNSCC(70;0.22)				36			8		0	0	0.004482	0	0
SC5DL	6309	broad.mit.edu	37	11	121178097	121178097	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:121178097C>T	uc001pxu.3	+	4	924	c.776C>T	c.(775-777)tCc>tTc	p.S259F	SC5DL_uc001pxt.3_3'UTR|SC5DL_uc001pxv.3_Missense_Mutation_p.S259F	NM_006918	NP_008849	O75845	SC5D_HUMAN	Homo sapiens sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like (SC5DL), transcript variant 1, mRNA.	259				PQILQPFINGSAHHTDHHMFFDYNYGQYFTLWDRIGGSFKN PSSFEGKGPLSYVKEMTEGKRSSHSGNGCKNEKLFNGEFTK TE -> RMKNYSMESLQRLNRLLPSYS (in Ref. 1; BAA18970).	fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|skin(1)	13		Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	OV - Ovarian serous cystadenocarcinoma(1;0.0334)	BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AATCCTTCATCCTTTGAGGGG	0.413000														35			29		0	0	0.002445	0	0
ALKBH7	84266	broad.mit.edu	37	19	6374273	6374273	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:6374273C>A	uc002meo.2	+	1	652	c.264C>A	c.(262-264)atC>atA	p.I88I		NM_032306	NP_115682	Q9BT30	ALKB7_HUMAN	Homo sapiens alkB, alkylation repair homolog 7 (E. coli) (ALKBH7), mRNA.	88						extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCCGGGCCATCCTGCAGCGCG	0.682000														18			18		3.51602e-12	5.2612e-12	0.008871	1	0
KRT84	3890	broad.mit.edu	37	12	52778905	52778905	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52778905G>A	uc001sah.1	-	0	513	c.465C>T	c.(463-465)gaC>gaT	p.D155D		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	155	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGCATTGGGGTCAATCTCCA	0.502000														312			57		0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38889067	38889067	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:38889067G>A	uc021wvy.1	-	25	4693	c.4494C>T	c.(4492-4494)ttC>ttT	p.F1498F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1498					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GACCAATGTTGAACAGAGAAG	0.468000														42			18		0	0	0.006122	0	0
MFN1	55669	broad.mit.edu	37	3	179095136	179095136	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:179095136C>T	uc003fjt.3	+	10	1320	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L	MFN1_uc003fjs.3_Missense_Mutation_p.S410L|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Missense_Mutation_p.S263L	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	410					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTTCAGGTTTCATGTGCAATG	0.239000														86			28		0	0	0.002096	0	0
XPOT	11260	broad.mit.edu	37	12	64815032	64815032	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:64815032C>T	uc001ssb.3	+	8	1367	c.861C>T	c.(859-861)ttC>ttT	p.F287F	XPOT_uc009zqm.2_Silent_p.F197F	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	287	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATGTTGACTTCCTGGCCAGAT	0.363000														98			41		0	0	0.002852	0	0
VWCE	220001	broad.mit.edu	37	11	61048115	61048115	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:61048115C>T	uc001nra.3	-	8	1584	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	435	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATGGGCAGCACCCACCATCTC	0.552000														19			12		0	0	0.004007	0	0
C1R	715	broad.mit.edu	37	12	7242783	7242783	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:7242783T>C	uc010sfy.2	-	2	352	c.293A>G	c.(292-294)aAc>aGc	p.N98S	C1R_uc010sfz.1_Missense_Mutation_p.N112S|C1R_uc021quh.1_5'UTR|C1R_uc010sga.1_Intron	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	98	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCGGGGGGTTGCCCAGTGG	0.517000														6			3		0	0	0.000248	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834710	125834710	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:125834710C>T	uc001uhe.1	+	1	773	c.765C>T	c.(763-765)gcC>gcT	p.A255A	TMEM132B_uc021rgl.1_Silent_p.A145A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	255						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CGTTTCCAGCCCGAGAGAGGA	0.577000														85			31		0	0	0.002096	0	0
IGSF10	285313	broad.mit.edu	37	3	151155730	151155730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:151155730C>T	uc011bod.2	-	5	6619	c.6619G>A	c.(6619-6621)Gat>Aat	p.D2207N	IGSF10_uc011bob.2_Missense_Mutation_p.D234N|IGSF10_uc011boc.2_Missense_Mutation_p.D186N	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2207	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTCCAGAATCGAGCAGTTTC	0.428000														67			23		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179477031	179477031	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179477031C>T	uc021vsy.1	-	214	42742	c.42517G>A	c.(42517-42519)Gac>Aac	p.D14173N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D7868N|TTN_uc021vta.1_Missense_Mutation_p.D7801N|TTN_uc021vtb.1_Missense_Mutation_p.D7676N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15100	Fibronectin type-III 2.						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)			AGCACAGAGTCCTCAATTTCG	0.448000														13			11		0	0	0.008291	0	0
HELZ	9931	broad.mit.edu	37	17	65082989	65082989	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:65082989G>A	uc010wqk.2	-	31	5640	c.5453C>T	c.(5452-5454)cCg>cTg	p.P1818L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.P1817L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473000														99			36		0	0	0.006230	0	0
FAM135B	51059	broad.mit.edu	37	8	139164516	139164516	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:139164516T>G	uc003yuy.3	-	12	2373	c.2202A>C	c.(2200-2202)gaA>gaC	p.E734D	FAM135B_uc003yux.3_Missense_Mutation_p.E635D|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E296D|FAM135B_uc003yvb.3_Missense_Mutation_p.E296D	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	734										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTGTGTTACTTTCTGTGTGTC	0.532000										HNSCC(54;0.14)				65			6		0	0	0.001168	0	0
ITPR1	3708	broad.mit.edu	37	3	4735338	4735338	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:4735338G>A	uc003bqc.3	+	31	4499	c.4149G>A	c.(4147-4149)aaG>aaA	p.K1383K	ITPR1_uc021wsi.1_Silent_p.K1389K|ITPR1_uc021wsj.1_Silent_p.K1374K|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1398					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CGGAGGGTAAGAATGTCTACA	0.572000														32			19		0	0	0.006122	0	0
USP11	8237	broad.mit.edu	37	X	47106768	47106768	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:47106768A>T	uc004dhp.3	+	18	2615	c.2615A>T	c.(2614-2616)tAt>tTt	p.Y872F	USP11_uc004dhq.3_Missense_Mutation_p.Y598F	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	872					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTACAAATATGACCTCATC	0.572000														3			16		0	0	0.008871	0	0
NRIP1	8204	broad.mit.edu	37	21	16337281	16337281	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:16337281G>A	uc021whl.1	-	0	3233	c.3233C>T	c.(3232-3234)tCt>tTt	p.S1078F	NRIP1_uc002yjx.2_Missense_Mutation_p.S1078F	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	1078					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)		ACTGGTAACAGAATTGCCTCC	0.418000														135			34		0	0	0.005524	0	0
ADH1C	126	broad.mit.edu	37	4	100268182	100268182	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:100268182C>T	uc021xqi.1	-	2		c.325G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGTAGTCACCCCTTCTCAAA	0.517000														88			55		0	0	0.003610	0	0
BCKDHA	593	broad.mit.edu	37	19	41925149	41925149	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:41925149G>A	uc002oqq.3	+	4	633	c.594G>A	c.(592-594)aaG>aaA	p.K198K	BCKDHA_uc002oqm.4_Silent_p.K232K|BCKDHA_uc002oqp.2_Silent_p.K90K|BCKDHA_uc002oqr.3_Silent_p.K198K|BCKDHA_uc010xvz.2_Silent_p.K176K	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	198					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACGGCTGCAAGGAACGCCACT	0.567000														9			8		0	0	0.003080	0	0
MCRS1	10445	broad.mit.edu	37	12	49958267	49958267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:49958267G>A	uc001rui.1	-	4	593	c.593C>T	c.(592-594)tCc>tTc	p.S198F	MCRS1_uc001ruj.2_Missense_Mutation_p.S172F|MCRS1_uc001ruk.1_Missense_Mutation_p.S185F|MCRS1_uc009zlj.1_5'UTR	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	185					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CACTCACTTGGAGATGACAGG	0.607000														11			7		0	0	0.004482	0	0
SSPO	23145	broad.mit.edu	37	7	149490420	149490420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:149490420G>A	uc010lpk.3	+	38	5887	c.5887G>A	c.(5887-5889)Ggg>Agg	p.G1963R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1966	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTGTGAGGGGTGTGAGCA	0.647000														22			8		0	0	0.008291	0	0
DUOX2	50506	broad.mit.edu	37	15	45394107	45394107	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:45394107C>T	uc001zun.3	-	20	2938	c.2735G>A	c.(2734-2736)gGa>gAa	p.G912E	DUOX2_uc010bea.3_Missense_Mutation_p.G912E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	912	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GTCCTGGAATCCCGACTCCCG	0.572000														21			15		0	0	0.004990	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882638	228882638	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:228882638A>C	uc002vpq.2	-	6	2979	c.2932T>G	c.(2932-2934)Tcc>Gcc	p.S978A	SPHKAP_uc002vpp.2_Missense_Mutation_p.S978A|SPHKAP_uc010zlx.1_Missense_Mutation_p.S978A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	978						cytoplasm	protein binding	p.R977Q(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCTTCAAGGATCGGCAGGGT	0.547000														15			32		0	0	0.002445	0	0
MUC16	94025	broad.mit.edu	37	19	9083324	9083324	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9083324C>T	uc002mkp.3	-	0	8695	c.8491G>A	c.(8491-8493)Gaa>Aaa	p.E2831K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2831	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						GTGGTGATTTCAGACATGGCT	0.507000														8			8		0	0	0.006214	0	0
DDX3X	1654	broad.mit.edu	37	X	41204721	41204721	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:41204721C>T	uc004dfe.3	+	11	2090	c.1235C>T	c.(1234-1236)tCt>tTt	p.S412F	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.S412F|DDX3X_uc011mkq.2_Missense_Mutation_p.S396F|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	412	Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding	p.S412F(4)		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						GGCTCTACCTCTGAAAACATC	0.353000										HNSCC(61;0.18)				4			24		0	0	0.005443	0	0
THADA	63892	broad.mit.edu	37	2	43520266	43520266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:43520266C>T	uc002rsw.4	-	31	4877	c.4525G>A	c.(4525-4527)Gtg>Atg	p.V1509M	THADA_uc010far.3_Missense_Mutation_p.V704M|THADA_uc002rsx.4_Missense_Mutation_p.V1509M|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1509							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)				AGGCCTGGCACCTTGAAGGCC	0.567000														359			137		0	0	0.003610	0	0
LRFN2	57497	broad.mit.edu	37	6	40400382	40400382	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:40400382G>A	uc003oph.1	-	1	936	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	157						cell junction|integral to membrane|postsynaptic membrane		p.L156L(1)		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)					GGTTGTTGTAGGAGAGGTCCA	0.582000														86			20		0	0	0.007413	0	0
C7	730	broad.mit.edu	37	5	40955588	40955588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:40955588G>A	uc003jmh.3	+	9	1307	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	398	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATCCTGCTGGAAACAAAAGG	0.458000														49			97		0	0	0.003610	0	0
NAA11	84779	broad.mit.edu	37	4	80246504	80246504	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:80246504C>T	uc003hlt.4	-	0	668	c.528G>A	c.(526-528)gaG>gaA	p.E176E	NAA11_uc021xpl.1_Silent_p.E176E	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	176						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCTCCTGGTTCTCCCTGGAGC	0.537000														17			15		0	0	0.004990	0	0
TSPAN8	7103	broad.mit.edu	37	12	71519129	71519129	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:71519129C>T	uc009zrt.1	-	7	861	c.699G>A	c.(697-699)caG>caA	p.Q233Q	TSPAN8_uc001swk.1_Silent_p.Q233Q|TSPAN8_uc001swj.1_Silent_p.Q233Q	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	233					protein glycosylation	integral to membrane|lysosome	signal transducer activity	p.Q233H(2)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TGTTCCCGATCTGGCAATACA	0.353000														238			96		0	0	0.003610	0	0
MYADM	91663	broad.mit.edu	37	19	54377065	54377065	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54377065C>T	uc002qcm.3	+	2	430	c.282C>T	c.(280-282)ttC>ttT	p.F94F	MYADM_uc002qcl.3_Silent_p.F94F|MYADM_uc002qcn.3_Silent_p.F94F|MYADM_uc002qco.3_Silent_p.F94F|MYADM_uc002qcp.3_Silent_p.F94F|MYADM_uc021vbb.1_Silent_p.F94F	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	94	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		AGGCCCGCTTCCCCCTGTCTT	0.617000														58			30		0	0	0.008361	0	0
LYST	1130	broad.mit.edu	37	1	235904728	235904728	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:235904728G>A	uc001hxj.2	-	30	8527	c.8352C>T	c.(8350-8352)tcC>tcT	p.S2784S	LYST_uc009xga.1_Silent_p.S420S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2784					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTACTTGTAGGGATGGGCTGA	0.373000														125			23		0	0	0.006320	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987565	7987565	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7987565C>T	uc003mxx.4	+	0	1231	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		GAAGCCTCTTCCCACATTTAA	0.448000														53			14		0	0	0.002450	0	0
ZZEF1	23140	broad.mit.edu	37	17	3937384	3937385	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:3937384_3937385CC>TT	uc002fxe.3	-	39	6572_6573	c.6508_6509GG>AA	c.(6508-6510)ggg>AAg	p.G2170K	ZZEF1_uc002fxh.3_Missense_Mutation_p.G484K|ZZEF1_uc002fxi.3_Missense_Mutation_p.G405K|ZZEF1_uc002fxj.1_Missense_Mutation_p.G783K	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2170							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAACTGTCCCCTGCAGCAAAC	0.545000														62			40		0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56335074	56335074	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:56335074G>A	uc003pcy.4	-	76	14567	c.14459C>T	c.(14458-14460)cCa>cTa	p.P4820L	DST_uc003pcw.4_5'Flank|DST_uc003pcx.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7232					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCGACTGGTTGGAAACTCTAA	0.388000														29			5		0	0	0.001168	0	0
NLRP11	204801	broad.mit.edu	37	19	56321526	56321526	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:56321526G>A	uc010ygf.2	-	4	1161	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NLRP11_uc002qlz.3_Silent_p.F51F|NLRP11_uc002qmb.3_Silent_p.F51F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCCCATCAGGAACACATTGA	0.393000														22			17		0	0	0.006122	0	0
UBN1	29855	broad.mit.edu	37	16	4926972	4926972	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:4926972C>T	uc002cyb.3	+	15	3464	c.3125C>T	c.(3124-3126)tCc>tTc	p.S1042F	UBN1_uc010uxw.2_Missense_Mutation_p.S1042F|UBN1_uc002cyc.3_Missense_Mutation_p.S1042F	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1042	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGCTCGAACTCCTTGGGAATT	0.562000														75			40		0	0	0.003214	0	0
TNNT2	7139	broad.mit.edu	37	1	201334796	201334796	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:201334796G>A	uc001gwf.3	-	8	305	c.236C>T	c.(235-237)tCg>tTg	p.S79L	TNNT2_uc021phc.1_Missense_Mutation_p.S69L|TNNT2_uc001gwg.3_Missense_Mutation_p.S69L|TNNT2_uc001gwh.3_Missense_Mutation_p.S60L|TNNT2_uc001gwi.3_Missense_Mutation_p.S78L|TNNT2_uc009wzr.3_Missense_Mutation_p.S10L|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.S44L|TNNT2_uc001gwk.1_Missense_Mutation_p.S10L|TNNT2_uc009wzt.1_Missense_Mutation_p.S69L	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	79					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GGGCATGAACGACCTGTTGGA	0.567000														16			26		0	0	0.006320	0	0
SHANK2	22941	broad.mit.edu	37	11	70333095	70333095	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:70333095G>A	uc001oqc.3	-	20	3217	c.3105C>T	c.(3103-3105)gcC>gcT	p.A1035A	SHANK2_uc010rqn.2_Silent_p.A511A|SHANK2_uc001opz.3_Silent_p.A506A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	722					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGAGAGGAAGGCCGGGGAGT	0.692000														202			13		0	0	0.002450	0	0
OR6C76	390326	broad.mit.edu	37	12	55820729	55820729	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:55820729G>A	uc010spm.2	+	0	692	c.692G>A	c.(691-693)aGa>aAa	p.R231K		NM_001005183	NP_001005183	A6NM76	O6C76_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCACAGCAAAGAAAAAAAGCC	0.368000														27			17		0	0	0.006122	0	0
DNAH9	1770	broad.mit.edu	37	17	11593583	11593583	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:11593583C>T	uc002gne.3	+	19	4512	c.4444C>T	c.(4444-4446)Ctg>Ttg	p.L1482L	DNAH9_uc010coo.3_Silent_p.L776L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1482	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTCAGAACCTGGTGATGTC	0.507000														40			29		0	0	0.007291	0	0
HMCN1	83872	broad.mit.edu	37	1	186088383	186088384	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:186088383_186088384GG>AA	uc001grq.1	+	77	12138_12139	c.11909_11910GG>AA	c.(11908-11910)agg>aAA	p.R3970K	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3970	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTCGCTAGGAATGCGGCTG	0.406000														165			35		0	0	0.004672	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999123	27999123	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:27999123T>A	uc004dbx.1	-	0	444	c.329A>T	c.(328-330)gAa>gTa	p.E110V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	110	Glu-rich.									NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ctcctccccttcctcctccat	0.517000														3			21		0	0	0.008871	0	0
PDE9A	5152	broad.mit.edu	37	21	44174108	44174108	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:44174108C>T	uc002zbm.3	+	9	807	c.744C>T	c.(742-744)ctC>ctT	p.L248L	PDE9A_uc002zbn.3_Silent_p.L121L|PDE9A_uc002zbo.3_Silent_p.L195L|PDE9A_uc002zbp.3_Silent_p.L41L|PDE9A_uc002zbq.3_Silent_p.L146L|PDE9A_uc002zbs.3_Silent_p.L41L|PDE9A_uc002zbr.3_Silent_p.L41L|PDE9A_uc002zbt.3_Silent_p.L120L|PDE9A_uc002zbu.3_Silent_p.L114L|PDE9A_uc002zbv.3_Silent_p.L88L|PDE9A_uc002zbw.3_Silent_p.L31L|PDE9A_uc002zbx.3_Silent_p.L188L|PDE9A_uc002zby.3_Silent_p.L31L|PDE9A_uc002zbz.3_Silent_p.L140L|PDE9A_uc002zca.3_Silent_p.L207L|PDE9A_uc002zcb.3_Silent_p.L222L|PDE9A_uc002zcc.3_Silent_p.L147L|PDE9A_uc002zcd.3_Silent_p.L162L|PDE9A_uc002zce.3_Silent_p.L181L|PDE9A_uc002zcf.3_Silent_p.L41L|PDE9A_uc002zcg.3_Silent_p.L41L|PDE9A_uc010gpf.1_Silent_p.L41L	NM_002606	NP_001001585	O76083	PDE9A_HUMAN	Homo sapiens phosphodiesterase 9A (PDE9A), transcript variant 1, mRNA.	248					platelet activation|signal transduction	Golgi apparatus|cytosol|endoplasmic reticulum|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						AGTACCTGCTCTCTCCAGAGA	0.577000														13			6		0	0	0.003080	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130629	20130629	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:20130629C>T	uc002zrr.2	+	9	1583	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	ZDHHC8_uc002zrq.3_Silent_p.A492A|ZDHHC8_uc010gsa.3_Silent_p.A298A	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	492						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GTGGCCACGCCTGCCCTGCCC	0.677000														25			17		0	0	0.007413	0	0
MYH3	4621	broad.mit.edu	37	17	10541482	10541482	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:10541482C>T	uc002gmq.2	-	26	3695	c.3607G>A	c.(3607-3609)Gag>Aag	p.E1203K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1203					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCCCCAAGCTCGGCCACACTA	0.602000														31			23		0	0	0.002299	0	0
TMEM57	55219	broad.mit.edu	37	1	25812149	25812149	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:25812149C>T	uc001bkk.3	+	7	1561	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	TMEM57_uc009vru.3_Silent_p.I226I|TMEM57_uc009vrv.3_Silent_p.I95I	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	453						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAATATCAGCCAGTTGG	0.353000														64			39		0	0	0.007835	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273392	139273392	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:139273392G>A	uc004chh.3	-	20	2896	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	963	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GAAGTGCCAGGTTTGGCTGCC	0.667000														12			13		0	0	0.001368	0	0
APRT	353	broad.mit.edu	37	16	88876248	88876249	+	Splice_Site	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:88876248_88876249CC>TT	uc002flv.3	-	5	436	c.401_splice	c.e5-1	p.G134_splice	APRT_uc002flw.3_Intron	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	134					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	GTTCATGGTTCCTGGGGATGGG	0.663000														21			6		0	0	0.004672	0	0
PSG5	5673	broad.mit.edu	37	19	43680138	43680138	+	Missense_Mutation	SNP	T	C	C	rs147160846		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:43680138T>C	uc002ovu.3	-	2	724	c.593A>G	c.(592-594)gAa>gGa	p.E198G	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.E198G	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	198	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GATCCTGTTTTCAATGGGTCG	0.502000														115			67		0	0	0.003610	0	0
LDHA	3939	broad.mit.edu	37	11	18421065	18421065	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:18421065C>T	uc001mok.3	+	2	486	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.L72F|LDHA_uc010rdc.1_Missense_Mutation_p.L72F|LDHA_uc021qep.1_Missense_Mutation_p.L72F|LDHA_uc010rdd.2_Missense_Mutation_p.L101F	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	72					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	CAGCCTTTTCCTTAGAACACC	0.383000														33			29		0	0	0.003271	0	0
DGKD	8527	broad.mit.edu	37	2	234355402	234355402	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:234355402C>T	uc002vui.1	+	11	1391	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	DGKD_uc002vuj.1_Missense_Mutation_p.S416F|DGKD_uc010fyh.1_Missense_Mutation_p.S327F|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	460					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCTCCTCTACC	0.597000														34			28		0	0	0.002096	0	0
SUPT5H	6829	broad.mit.edu	37	19	39961136	39961136	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:39961136C>T	uc002olo.4	+	17	1829	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	SUPT5H_uc002olp.4_Silent_p.I550I|SUPT5H_uc002olq.4_Silent_p.I546I|SUPT5H_uc002oln.4_Silent_p.I550I|SUPT5H_uc002olr.4_Silent_p.I550I|SUPT5H_uc002ols.1_Silent_p.I173I|SUPT5H_uc010egp.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	550					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGGTGTCATCGTGCGACTAG	0.592000														118			49		0	0	0.003610	0	0
C1orf222	339457	broad.mit.edu	37	1	1854135	1854135	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:1854135C>T	uc001aik.3	-	9	1559	c.709G>A	c.(709-711)Gca>Aca	p.A237T	C1orf222_uc001ail.3_Missense_Mutation_p.A237T			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	237										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	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;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCAGGGATGCGACGCTGTCT	0.632000														59			19		0	0	0.001882	0	0
HEATR1	55127	broad.mit.edu	37	1	236746319	236746319	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:236746319G>A	uc001hyd.2	-	17	2571	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	HEATR1_uc009xgh.2_Missense_Mutation_p.P50S	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	807					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTACCTTTAGGAAAAGATTTA	0.383000														29			60		0	0	0.003610	0	0
C6orf25	80739	broad.mit.edu	37	6	31692559	31692559	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31692559G>A	uc011doc.2	+	4	599	c.559G>A	c.(559-561)Gag>Aag	p.E187K	C6orf25_uc021yux.1_Missense_Mutation_p.E187K|C6orf25_uc003nwk.3_Missense_Mutation_p.R193Q|C6orf25_uc011dod.2_Missense_Mutation_p.E143K|C6orf25_uc003nwn.3_Missense_Mutation_p.R193Q|C6orf25_uc011doe.2_Missense_Mutation_p.E163K|C6orf25_uc003nwo.3_Missense_Mutation_p.R149Q	NM_138272	NP_612116	O95866	G6B_HUMAN	Homo sapiens chromosome 6 open reading frame 25 (C6orf25), transcript variant 2, mRNA.	187						Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGTGAAAACCGAGCCCCAGAG	0.572000														482			72		0	0	0.003610	0	0
FSCB	84075	broad.mit.edu	37	14	44974376	44974376	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:44974376C>T	uc001wvn.3	-	0	2124	c.1815G>A	c.(1813-1815)gaG>gaA	p.E605E		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	605	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGCAGGAGCCTCTTCTGCAG	0.597000														13			12		0	0	0.001368	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384701	51384701	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:51384701G>A	uc001rxk.2	-	14	1589	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	SLC11A2_uc001rxd.4_Silent_p.V333V|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.V484V|SLC11A2_uc001rxc.4_Silent_p.V484V|SLC11A2_uc001rxg.2_Silent_p.V97V|SLC11A2_uc010smx.2_Silent_p.V480V|SLC11A2_uc001rxh.2_Silent_p.V484V|SLC11A2_uc010smy.2_Silent_p.V447V|SLC11A2_uc001rxj.2_Silent_p.V484V|SLC11A2_uc001rxi.3_Silent_p.V484V	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	484					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGATGATAAGGACCAAGATTC	0.468000														25			12		0	0	0.001855	0	0
UBR4	23352	broad.mit.edu	37	1	19403252	19403252	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:19403252C>T	uc001bbi.3	-	104	15473	c.15469G>A	c.(15469-15471)Gag>Aag	p.E5157K	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.3_Missense_Mutation_p.E52K|UBR4_uc010ocv.2_Missense_Mutation_p.E680K|UBR4_uc009vph.3_Missense_Mutation_p.E812K|UBR4_uc010ocw.2_Missense_Mutation_p.E821K|UBR4_uc001bbg.3_Missense_Mutation_p.E868K|UBR4_uc001bbh.3_Missense_Mutation_p.E866K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5157					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S5156L(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCGAGGAACTCTGAGAAGGTC	0.527000														148			73		0	0	0.003610	0	0
AGBL1	123624	broad.mit.edu	37	15	86807597	86807597	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:86807597G>A	uc002blz.1	+	9	1137	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	AGBL1_uc002bma.1_Missense_Mutation_p.D84N|AGBL1_uc002bmb.1_Missense_Mutation_p.D47N	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	353					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTACAGCAAGGACCAAAGCTC	0.493000														7			5		0	0	0.001168	0	0
FREM1	158326	broad.mit.edu	37	9	14801670	14801670	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:14801670G>A	uc003zlm.3	-	20	4490	c.3674C>T	c.(3673-3675)tCc>tTc	p.S1225F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1225					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTCCATGGAAAAGCTGTG	0.423000														29			6		0	0	0.001168	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622455	234622455	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:234622455T>C	uc002vuw.3	+	0	818	c.818T>C	c.(817-819)aTg>aCg	p.M273T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.M273T	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	272					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGCCCAACATGGTCTTCATT	0.502000														34			10		0	0	0.002780	0	0
SNRPB	6628	broad.mit.edu	37	20	2442428	2442428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:2442428G>A	uc002wfz.1	-	6	860	c.697C>T	c.(697-699)Ccg>Tcg	p.P233S	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	233	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CGCATTCCCGGGGGAGGGGGC	0.552000														83			17		0	0	0.006122	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905757	164905757	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:164905757G>A	uc003fej.4	-	1	3306	c.2862C>T	c.(2860-2862)ctC>ctT	p.L954L	SLITRK3_uc003fek.3_Silent_p.L954L|SLITRK3_uc021xgy.1_Silent_p.L954L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	954						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCCTTAACTCGAGGTAATCAC	0.448000										HNSCC(40;0.11)				140			51		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100686884	100686884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:100686884C>T	uc003uxp.1	+	2	12240	c.12187C>T	c.(12187-12189)Cca>Tca	p.P4063S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4063						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCACACCATCCCACCTACATT	0.547000														44			34		0	0	0.003755	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236519	33236519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:33236519C>T	uc001bvu.1	+	5	1783	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	KIAA1522_uc010ohm.1_Missense_Mutation_p.P532L|KIAA1522_uc001bvv.2_Missense_Mutation_p.P521L|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	521	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACACTTTCGCCCTCCAGTGGA	0.667000														9			5		0	0	0.000602	0	0
GBP2	2634	broad.mit.edu	37	1	89582871	89582871	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:89582871G>A	uc001dmz.1	-	5	943	c.672C>T	c.(670-672)atC>atT	p.I224I	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	224					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AGAACTTTCGGATGCACAACC	0.403000														26			16		0	0	0.007413	0	0
LGI2	55203	broad.mit.edu	37	4	25030200	25030200	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:25030200C>T	uc003grf.2	-	2	297	c.198_splice	c.e2-1	p.L66_splice		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	66						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTACCAGGCTCCTACGGGCAA	0.478000														43			5		0	0	0.001168	0	0
HGFAC	3083	broad.mit.edu	37	4	3446151	3446151	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:3446151G>A	uc003ghc.3	+	5	715	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	HGFAC_uc010icw.3_Missense_Mutation_p.E238K	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	238	Fibronectin type-I.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GACCTGGTGCGAAGGCACCCG	0.697000														16			13		0	0	0.003163	0	0
CKAP5	9793	broad.mit.edu	37	11	46784543	46784543	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:46784543G>A	uc001ndi.2	-	29	4000	c.3874C>T	c.(3874-3876)Ccc>Tcc	p.P1292S	CKAP5_uc009ylg.1_Missense_Mutation_p.P1178S|CKAP5_uc001ndj.2_Missense_Mutation_p.P1292S|CKAP5_uc001ndh.1_Missense_Mutation_p.P221S|SNORD67_uc001ndk.3_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1292					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACAAGATAGGGGATGAAGGAA	0.403000														34			18		0	0	0.008871	0	0
ANKRD5	63926	broad.mit.edu	37	20	10030785	10030785	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:10030785A>T	uc002wno.3	+	6	1961	c.1568A>T	c.(1567-1569)aAt>aTt	p.N523I	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.N523I|ANKRD5_uc010gbz.3_Missense_Mutation_p.N334I	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	523							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						ATGAAGGATAATTATTACAAA	0.428000														54			18		0	0	0.001523	0	0
LHX2	9355	broad.mit.edu	37	9	126783392	126783392	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:126783392G>A	uc010mwi.1	+	3	1505	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	LHX2_uc004boe.1_Missense_Mutation_p.E248K	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	248						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCTGCAACGAAAACGACGC	0.612000														3			16		0	0	0.004990	0	0
C3orf20	84077	broad.mit.edu	37	3	14744762	14744762	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:14744762C>T	uc003byy.3	+	5	1323	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	C3orf20_uc003byz.3_Missense_Mutation_p.R169C|C3orf20_uc003bza.3_Missense_Mutation_p.R169C|C3orf20_uc003byx.2_Missense_Mutation_p.R291C	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	291						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGAGTTGTGTCGCCACATGTG	0.627000														67			35		0	0	0.004878	0	0
OR2M3	127062	broad.mit.edu	37	1	248367286	248367286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:248367286G>A	uc010pzg.2	+	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTTAGGAAAGGGCAAG	0.418000														100			14		0	0	0.003163	0	0
DZIP1L	199221	broad.mit.edu	37	3	137783575	137783575	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:137783575C>T	uc003erq.3	-	14	2400	c.2037G>A	c.(2035-2037)gaG>gaA	p.E679E		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	679						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTAGCTGCTTCTCCAGGTTTT	0.517000														322			129		0	0	0.003610	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172563854	172563854	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:172563854G>A	uc002uha.1	+	4	467	c.302G>A	c.(301-303)aGc>aAc	p.S101N	DYNC1I2_uc002uhb.1_Missense_Mutation_p.S95N|DYNC1I2_uc010zds.1_Missense_Mutation_p.S113N|DYNC1I2_uc002uhc.3_Missense_Mutation_p.S95N|DYNC1I2_uc002uhd.1_Missense_Mutation_p.S95N|DYNC1I2_uc002uhe.1_Missense_Mutation_p.S101N|DYNC1I2_uc002uhf.1_Missense_Mutation_p.S95N|DYNC1I2_uc010zdt.1_Missense_Mutation_p.S113N|DYNC1I2_uc002uhg.1_Missense_Mutation_p.S16N	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	101					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GAAGCTGGAAGCCAAGACTCT	0.438000														37			21		0	0	0.003330	0	0
DSP	1832	broad.mit.edu	37	6	7585916	7585916	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7585916C>T	uc003mxp.1	+	23	8700	c.8421C>T	c.(8419-8421)tcC>tcT	p.S2807S	DSP_uc003mxq.1_Silent_p.S2208S|DSP_uc021yle.1_Silent_p.S2364S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2807	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCCGCCTCCGTGTCGTCCA	0.572000														265			43		0	0	0.003610	0	0
EDEM3	80267	broad.mit.edu	37	1	184702001	184702001	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:184702001G>A	uc010pom.2	-	5	843	c.582C>T	c.(580-582)ttC>ttT	p.F194F	EDEM3_uc010pok.2_Silent_p.F194F|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Silent_p.F117F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	194					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGTAGTGTTGAAAGCCGGTA	0.353000														62			20		0	0	0.002299	0	0
DNAH12	201625	broad.mit.edu	37	3	57494215	57494215	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:57494215G>A	uc003dit.2	-	6	776	c.595C>T	c.(595-597)Caa>Taa	p.Q199*	DNAH12_uc003diu.2_Nonsense_Mutation_p.Q199*	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	199	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAGAATATTTGATTTCTTGCC	0.353000														32			19		0	0	0.007413	0	0
DSG3	1830	broad.mit.edu	37	18	29055678	29055678	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:29055678G>A	uc002kws.3	+	15	2564	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	DSG3_uc002kwt.3_Missense_Mutation_p.E101K	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	819					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)			CTATGATAATGAAGGCGCAGA	0.473000														37			23		0	0	0.003330	0	0
UNC5B	219699	broad.mit.edu	37	10	73053615	73053615	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:73053615C>T	uc001jro.3	+	12	2551	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	UNC5B_uc001jrp.3_Silent_p.F689F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	700					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGCCGTCTTCGCCCCCGCCC	0.657000														2			4		0	0	0.001168	0	0
KCNG1	3755	broad.mit.edu	37	20	49621209	49621209	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:49621209C>T	uc002xwa.4	-	2	1204	c.909G>A	c.(907-909)ctG>ctA	p.L303L		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	303						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						CCAGGTCGATCAGCGTCAGCG	0.677000														10			4		0	0	0.000602	0	0
CADPS2	93664	broad.mit.edu	37	7	122019443	122019443	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:122019443G>A	uc022akp.1	-	23	3788	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I	CADPS2_uc003vkg.4_Silent_p.I776I|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.I1081I|CADPS2_uc022akr.1_Silent_p.I1122I	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1122					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACAGTGAAATGATTTCTTTTA	0.259000														19			7		0	0	0.004482	0	0
ZNF831	128611	broad.mit.edu	37	20	57769544	57769544	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:57769544G>A	uc002yan.3	+	0	3470	c.3470G>A	c.(3469-3471)gGg>gAg	p.G1157E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1157						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACTCAGGGACGTCCCGG	0.677000														50			15		0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49698439	49698439	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49698439C>T	uc003cxe.4	+	5	9275	c.9161C>T	c.(9160-9162)cCc>cTc	p.P3054L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3054					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTCCAGCAGCCCCGCTTCCAG	0.682000														33			10		0	0	0.008291	0	0
TEX2	55852	broad.mit.edu	37	17	62290858	62290858	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:62290858G>A	uc002jed.3	-	1	871	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TEX2_uc002jec.3_Silent_p.S240S|TEX2_uc002jee.3_Silent_p.S240S	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	240					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGTTCAGTTTGGAATCAGGTG	0.507000														79			20		0	0	0.001523	0	0
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:154574527G>A	uc001ffh.3	-	1	833	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Silent_p.I197I|ADAR_uc001ffi.3_Silent_p.I197I|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	197					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.I197I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522000														144			60		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196619129	196619129	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:196619129G>A	uc002utj.4	-	62	11797	c.11696C>T	c.(11695-11697)cCt>cTt	p.P3899L	DNAH7_uc002uti.4_Missense_Mutation_p.P382L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3899					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGATCAATAGGAATTGTGTA	0.483000														20			15		0	0	0.003163	0	0
ATRIP	84126	broad.mit.edu	37	3	48501578	48501578	+	Silent	SNP	G	A	A	rs139858543	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:48501578G>A	uc003ctf.1	+	7	1157	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	ATRIP_uc011bbj.1_Silent_p.L248L|ATRIP_uc003ctg.1_Silent_p.L375L|TREX1_uc010hjy.3_5'UTR	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	375					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTCAGCCCTGAGAGAAGCAC	0.512000								Other conserved DNA damage response genes						61			34		0	0	0.003271	0	0
TET1	80312	broad.mit.edu	37	10	70441247	70441247	+	Splice_Site	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:70441247T>G	uc001jok.4	+	9	5419	c.4914_splice	c.e9+2	p.Q1638_splice		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1638					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CAAAATCAGGTATGTATTGGT	0.368000														15			6		0	0	0.001168	0	0
CES5A	221223	broad.mit.edu	37	16	55886881	55886881	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:55886881G>A	uc021tir.1	-	10	1418	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	CES5A_uc002eip.2_Silent_p.S395S|CES5A_uc002eio.2_Silent_p.S395S|CES5A_uc002eiq.2_Silent_p.S156S|CES5A_uc002eir.2_Silent_p.S289S	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	395						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTTCAGTCAGGGAGTGCTTGT	0.473000														31			25		0	0	0.006320	0	0
POU2F2	5452	broad.mit.edu	37	19	42600377	42600377	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:42600377G>A	uc002osp.3	-	7	582	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	POU2F2_uc002osn.3_Intron|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Silent_p.L174L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	174					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGGTCGGGCAGCGTAGGGCGG	0.701000														6			4		0	0	0.000602	0	0
DHRS7C	201140	broad.mit.edu	37	17	9694460	9694460	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:9694460C>T	uc010vvb.2	-	0	155	c.142G>A	c.(142-144)Gga>Aga	p.G48R	DHRS7C_uc010cof.3_Missense_Mutation_p.G48R	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	48						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TTGCCCAGTCCTGAGATGGCA	0.602000														4			3		0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9068506	9068506	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9068506C>T	uc002mkp.3	-	2	19144	c.18940G>A	c.(18940-18942)Gaa>Aaa	p.E6314K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6316	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						AAATAGAATTCATTTGGTGAA	0.463000														57			21		0	0	0.001882	0	0
IGSF11	152404	broad.mit.edu	37	3	118621455	118621455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:118621455G>A	uc003ebw.3	-	6	1455	c.1208C>T	c.(1207-1209)tCc>tTc	p.S403F	IGSF11_uc011biv.2_Missense_Mutation_p.S375F|IGSF11_uc003ebx.3_Missense_Mutation_p.S379F|IGSF11_uc003eby.3_Missense_Mutation_p.S402F|IGSF11_uc003ebz.3_Missense_Mutation_p.S378F|IGSF11_uc010hqs.3_Missense_Mutation_p.S402F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN	Homo sapiens immunoglobulin superfamily, member 11 (IGSF11), transcript variant 2, mRNA.	403					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GATGGTGTAGGAATGAGTGTG	0.547000														62			23		0	0	0.002299	0	0
DICER1	23405	broad.mit.edu	37	14	95570308	95570308	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:95570308G>A	uc001ydw.2	-	21	3637	c.3425C>T	c.(3424-3426)tCt>tTt	p.S1142F	DICER1_uc010avh.1_Missense_Mutation_p.S40F|DICER1_uc021sbc.1_Missense_Mutation_p.S1142F|DICER1_uc001ydv.2_Missense_Mutation_p.S1132F|DICER1_uc001ydx.2_Missense_Mutation_p.S1142F|DICER1_uc001ydy.1_5'UTR|DICER1_uc021sbd.1_Missense_Mutation_p.S424F	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1142					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ATTTTCTAGAGAGGAGGTTCT	0.423000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					23			16		0	0	0.003163	0	0
AMZ1	155185	broad.mit.edu	37	7	2752035	2752035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2752035G>A	uc003smr.1	+	6	1381	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	AMZ1_uc003sms.1_Missense_Mutation_p.G284R|AMZ1_uc011jwa.1_Nonsense_Mutation_p.W89*	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	340							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CGTCAGTGTGGGAGGACACCC	0.667000														34			4		0	0	0.000248	0	0
TULP1	7287	broad.mit.edu	37	6	35480454	35480454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:35480454C>T	uc003okv.4	-	1	73	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TULP1_uc003okw.4_Missense_Mutation_p.E21K|TULP1_uc021yyx.1_Missense_Mutation_p.E21K|TULP1_uc021yyy.1_Missense_Mutation_p.E21K	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	21					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCAGGCTTTCTTCTTCATGC	0.627000														110			18		0	0	0.008871	0	0
ITGAL	3683	broad.mit.edu	37	16	30516721	30516721	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:30516721G>A	uc002dyi.4	+	19	2480	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E	ITGAL_uc002dyj.4_Silent_p.E684E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	768					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TCCCTTTTGAGAAGAACTGTG	0.542000														53			30		0	0	0.002445	0	0
F5	2153	broad.mit.edu	37	1	169484697	169484697	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:169484697G>A	uc001ggg.1	-	23	6658	c.6513C>T	c.(6511-6513)tcC>tcT	p.S2171S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2171	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACCATGGAGGATTTCAGCC	0.438000														114			210		0	0	0.003610	0	0
HCAR2	338442	broad.mit.edu	37	12	123186926	123186926	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:123186926G>A	uc001ucx.1	-	0	979	c.905C>T	c.(904-906)cCc>cTc	p.P302L	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	302					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.F301L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	GAAGAAGTTGGGAAAGGATGG	0.552000														75			12		0	0	0.004007	0	0
DNER	92737	broad.mit.edu	37	2	230253045	230253045	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:230253045C>T	uc002vpv.3	-	10	1938	c.1791G>A	c.(1789-1791)ctG>ctA	p.L597L		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	597	EGF-like 10; calcium-binding (Potential).				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.L597Q(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGGCTGGTCCAGGCAGCTCC	0.498000														76			49		0	0	0.003610	0	0
DOCK7	85440	broad.mit.edu	37	1	62993884	62993884	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:62993884C>G	uc001daq.3	-	30	3908	c.3874G>C	c.(3874-3876)Gca>Cca	p.A1292P	DOCK7_uc001dan.3_Missense_Mutation_p.A1153P|DOCK7_uc001dao.3_Missense_Mutation_p.A1153P|DOCK7_uc001dap.3_Missense_Mutation_p.A1261P|DOCK7_uc001dam.3_Missense_Mutation_p.A472P|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1292					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCTGCGATTGCCATGGCAACG	0.433000														30			17		0	0	0.004990	0	0
ZEB1	6935	broad.mit.edu	37	10	31810768	31810768	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:31810768G>A	uc001ivs.4	+	6	2568	c.2505G>A	c.(2503-2505)acG>acA	p.T835T	ZEB1_uc001ivr.4_Silent_p.T617T|ZEB1_uc010qef.2_Silent_p.T617T|ZEB1_uc009xlj.1_Silent_p.T761T|ZEB1_uc010qeg.1_Silent_p.T694T|ZEB1_uc009xlk.1_Silent_p.T617T|ZEB1_uc001ivu.4_Silent_p.T836T|ZEB1_uc010qeh.2_Silent_p.T768T|ZEB1_uc001ivv.4_Silent_p.T815T|ZEB1_uc001ivt.4_Silent_p.T617T|ZEB1_uc009xlo.2_Silent_p.T818T|ZEB1_uc009xlp.3_Silent_p.T819T	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	835					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATAAGCAAACGATTCTGATTC	0.498000														26			23		0	0	0.004656	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043683	77043684	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:77043683_77043684GG>AA	uc002jwt.3	+	2	735_736	c.653_654GG>AA	c.(652-654)ggg>gAA	p.G218E	C1QTNF1_uc002jwp.3_Missense_Mutation_p.G120E|C1QTNF1_uc002jwq.3_Missense_Mutation_p.G38E|C1QTNF1_uc002jwr.4_Missense_Mutation_p.G130E|C1QTNF1_uc002jws.3_Missense_Mutation_p.G120E	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	120	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GGCTCAGCAGGGGCCAGGGGCC	0.624000														37			56		0	0	0.004672	0	0
C1orf173	127254	broad.mit.edu	37	1	75036964	75036964	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:75036964C>T	uc001dgg.3	-	13	4649	c.4430G>A	c.(4429-4431)gGa>gAa	p.G1477E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1477	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						CCGTGATAATCCTAATCGGAA	0.552000														46			39		0	0	0.006999	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884876	50884876	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:50884876G>A	uc010ona.2	-	1	1186	c.1090C>T	c.(1090-1092)Cct>Tct	p.P364S	DMRTA2_uc010onb.2_Missense_Mutation_p.P364S	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	364	Ala-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GGCGCCGCAGGGCCCAGGCCG	0.776000														2			3		0	0	0.004672	0	0
CD84	8832	broad.mit.edu	37	1	160523164	160523164	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:160523164C>T	uc001fwh.4	-	3	843	c.764G>A	c.(763-765)aGg>aAg	p.R255K	CD84_uc001fwf.4_Intron|CD84_uc009wtn.3_Intron|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Intron|CD84_uc001fwj.3_Missense_Mutation_p.R255K	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	255					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGGAAAATCCTACCTTGTCT	0.463000														50			15		0	0	0.003163	0	0
HLX	3142	broad.mit.edu	37	1	221057631	221057631	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:221057631C>T	uc001hmv.4	+	3	1509	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	351					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGCGAGAAGCCATCAGGTGGA	0.657000														23			46		0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197403878	197403878	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:197403878T>C	uc001gtz.3	+	8	3094	c.2885T>C	c.(2884-2886)tTa>tCa	p.L962S	CRB1_uc010poz.2_Missense_Mutation_p.L938S|CRB1_uc009wza.3_Missense_Mutation_p.L850S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.L443S|CRB1_uc001gub.1_Missense_Mutation_p.L611S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	962	Laminin G-like 3.		Missing (in RP12; without preservation of the paraarteriolar retinal pigment epithelium).		cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GGTCAAATATTATTCAGAAGC	0.308000														83			38		0	0	0.008740	0	0
KCNH2	3757	broad.mit.edu	37	7	150648756	150648756	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:150648756C>T	uc003wic.3	-	6	2126	c.1725G>A	c.(1723-1725)gaG>gaA	p.E575E	KCNH2_uc003wib.3_Silent_p.E235E|KCNH2_uc011kux.2_Silent_p.E479E|KCNH2_uc003wid.3_Silent_p.E235E|KCNH2_uc003wie.3_Silent_p.E575E	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	575					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGTGTGGCTGCTCCATGTTGC	0.622000														17			21		0	0	0.002299	0	0
P2RY1	5028	broad.mit.edu	37	3	152554131	152554131	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:152554131T>A	uc003ezq.3	+	0	1396	c.560T>A	c.(559-561)cTc>cAc	p.L187H		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	187					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCCCCCATCCTCTTCTACTCA	0.532000														59			23		0	0	0.003330	0	0
MTMR8	55613	broad.mit.edu	37	X	63564991	63564991	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:63564991G>A	uc004dvs.3	-	6	889	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	MTMR8_uc011mou.2_Missense_Mutation_p.R267C	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	267	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AATCTGAAGCGAATGTTGGCA	0.488000														4			26		0	0	0.004656	0	0
GATA2	2624	broad.mit.edu	37	3	128204626	128204627	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:128204626_128204627CC>TT	uc003ekm.3	-	3	1249_1250	c.814_815GG>AA	c.(814-816)ggg>AAg	p.G272K	GATA2_uc003ekn.3_Missense_Mutation_p.G272K|GATA2_uc003eko.2_Missense_Mutation_p.G272K	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	272					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGCCGGTCCCCCCAGGAAGCCT	0.644000			Mis		AML(CML blast transformation)									17			6		0	0	0.004672	0	0
AGMO	392636	broad.mit.edu	37	7	15240949	15240949	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:15240949A>G	uc003stb.1	-	12	1469	c.1299T>C	c.(1297-1299)gtT>gtC	p.V433V		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	433					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCATGCTTCTAACTCCCCAGA	0.333000														50			40		0	0	0.003610	0	0
WNT8A	7478	broad.mit.edu	37	5	137426466	137426466	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:137426466G>A	uc011cyk.1	+	4	1050	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	WNT8A_uc011cyj.1_Missense_Mutation_p.E272K|WNT8A_uc003lcd.1_Missense_Mutation_p.E254K			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	254					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTTTTAGAGGAATCACCAGA	0.582000														56			37		0	0	0.006999	0	0
GPR179	440435	broad.mit.edu	37	17	36487299	36487299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:36487299G>A	uc002hpz.3	-	10	2174	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	718						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCTCATGAAGGAGCGGCCCAG	0.657000														8			22		0	0	0.001882	0	0
GIT2	9815	broad.mit.edu	37	12	110429562	110429562	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:110429562G>A	uc001tps.2	-	1	221	c.56C>T	c.(55-57)cCt>cTt	p.P19L	GIT2_uc001tpq.2_Missense_Mutation_p.P19L|GIT2_uc001tpv.2_Missense_Mutation_p.P19L|GIT2_uc001tpu.2_Missense_Mutation_p.P19L|GIT2_uc001tpt.2_Missense_Mutation_p.P19L|GIT2_uc010sxu.1_Intron|GIT2_uc001tpw.3_Missense_Mutation_p.P19L|GIT2_uc010sxv.1_Missense_Mutation_p.P19L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	19	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	p.P19S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGCCCAGGAAGGATCTGGAAA	0.478000														48			16		0	0	0.007413	0	0
USP6	9098	broad.mit.edu	37	17	5036747	5036747	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:5036747C>T	uc002gau.1	+	13	2516	c.286C>T	c.(286-288)Cga>Tga	p.R96*	USP6_uc002gav.1_Nonsense_Mutation_p.R96*|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Nonsense_Mutation_p.R157*|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	96					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCTCATAGATCGAGTGTACAA	0.522000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									49			26		0	0	0.008361	0	0
GMEB1	10691	broad.mit.edu	37	1	29041250	29041250	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:29041250G>A	uc001bra.3	+	9	1829	c.1687G>A	c.(1687-1689)Gtt>Att	p.V563I	GMEB1_uc001bqz.3_Missense_Mutation_p.V553I|GMEB1_uc001brb.3_Missense_Mutation_p.V553I	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCATCAAGTTCACAATGT	0.423000														42			25		0	0	0.005443	0	0
OR2J2	26707	broad.mit.edu	37	6	29142344	29142344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29142344G>A	uc011dlm.2	+	0	1034	c.932G>A	c.(931-933)gGg>gAg	p.G311E		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGGAGTGGGGGAAGTGACAG	0.423000														115			22		0	0	0.002299	0	0
PCLO	27445	broad.mit.edu	37	7	82584366	82584366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:82584366G>A	uc003uhx.2	-	4	6192	c.5903C>T	c.(5902-5904)tCg>tTg	p.S1968L	PCLO_uc003uhv.2_Missense_Mutation_p.S1968L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1899					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						GCCATCTACCGATCCATTGTA	0.363000														64			47		0	0	0.003610	0	0
CCDC39	339829	broad.mit.edu	37	3	180372596	180372596	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:180372596G>A	uc010hxe.3	-	6	999	c.884C>T	c.(883-885)aCg>aTg	p.T295M	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	295					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.T379K(1)|p.T295K(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTGATATGCCGTTCTACATTT	0.353000														31			11		0	0	0.001855	0	0
CDHR5	53841	broad.mit.edu	37	11	617422	617422	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:617422C>T	uc001lql.3	-	14	2734	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N	IRF7_uc009ycb.3_5'Flank|IRF7_uc010qwf.2_5'Flank|IRF7_uc001lqf.3_5'Flank|IRF7_uc010qwg.2_5'Flank|IRF7_uc001lqg.3_5'Flank|IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.D823N|CDHR5_uc009ycd.3_Missense_Mutation_p.D817N|CDHR5_uc001lqk.3_Missense_Mutation_p.D629N|CDHR5_uc009ycc.3_Missense_Mutation_p.D657N	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	823					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TCGCCCTCATCGCCGCTGCCG	0.692000														5			4		0	0	0.000602	0	0
PLIN3	10226	broad.mit.edu	37	19	4859643	4859643	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:4859643A>G	uc002mbj.2	-	3	484	c.307T>C	c.(307-309)Ttg>Ctg	p.L103L	PLIN3_uc002mbk.2_Silent_p.L103L|PLIN3_uc002mbl.3_Silent_p.L103L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	103					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTCCTCCAACTTGTCCAGC	0.562000														19			15		0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179501143	179501144	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179501143_179501144CC>TT	uc021vsy.1	-	173	33831_33832	c.33606_33607GG>AA	c.(33604-33609)acggct>acAAct	p.A11203T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A4898T|TTN_uc021vta.1_Missense_Mutation_p.A4831T|TTN_uc021vtb.1_Missense_Mutation_p.A4706T|TTN_uc010fre.1_Missense_Mutation_p.A1064T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12130	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAGTTTAGCCGTGGAGGTCT	0.351000														15			13		0	0	0.004672	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2274994	2274994	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:2274994C>T	uc003gex.2	-	9	2549	c.2229G>A	c.(2227-2229)acG>acA	p.T743T	ZFYVE28_uc011bvk.2_Silent_p.T673T|ZFYVE28_uc011bvl.2_Silent_p.T713T|ZFYVE28_uc003gew.2_Silent_p.T629T	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	743					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						TGGCATAGTTCGTCTGCAGCT	0.537000														130			98		0	0	0.003610	0	0
ADCY10	55811	broad.mit.edu	37	1	167805628	167805628	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:167805628C>T	uc001ger.3	-	22	3526	c.3228G>A	c.(3226-3228)ctG>ctA	p.L1076L	ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Silent_p.L923L|ADCY10_uc009wvk.3_Silent_p.L984L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1076					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						CTCCCAAAGCCAGAAAATGGT	0.398000														60			24		0	0	0.002780	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117527	46117527	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:46117527C>T	uc002zfw.1	+	0	441	c.411C>T	c.(409-411)tgC>tgT	p.C137C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	137	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						AGTCTAGCTGCCAGCCAGCTT	0.617000														47			41		0	0	0.006230	0	0
PRDM11	56981	broad.mit.edu	37	11	45226312	45226312	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:45226312C>T	uc001myo.3	+	5	888	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	213	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CAGACGAGACCAAAGCCAACT	0.542000														37			25		0	0	0.001786	0	0
ANK3	288	broad.mit.edu	37	10	61829952	61829952	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:61829952C>T	uc001jky.3	-	36	11025	c.10687G>A	c.(10687-10689)Gaa>Aaa	p.E3563K	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.	3563					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						GGCTTAGTTTCATCTTCCCGT	0.468000														23			26		0	0	0.008361	0	0
RELN	5649	broad.mit.edu	37	7	103236980	103236980	+	Silent	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:103236980G>C	uc022ajr.1	-	24	3622	c.3462C>G	c.(3460-3462)ctC>ctG	p.L1154L	RELN_uc022ajq.1_Silent_p.L1154L|RELN_uc010liz.3_Silent_p.L1154L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1154					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTACTGAAGGAGGACGCCCT	0.522000														63			56		0	0	0.003610	0	0
IARS	3376	broad.mit.edu	37	9	94984883	94984883	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:94984883C>T	uc004art.1	-	32	3882	c.3625G>A	c.(3625-3627)Ggt>Agt	p.G1209S	IARS_uc004ars.1_Missense_Mutation_p.G1002S|IARS_uc004aru.3_Missense_Mutation_p.G1209S|IARS_uc010mqr.2_Missense_Mutation_p.G1099S|IARS_uc010mqt.2_Missense_Mutation_p.G432S	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1209					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.Q1208H(1)		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)	TACAGAAGACCTTGGTGGGTG	0.498000														102			73		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41306605	41306605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:41306605G>A	uc002xkg.3	-	6	1238	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	PTPRT_uc010ggj.3_Missense_Mutation_p.P352S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	352	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.P352A(2)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCAACATCGGGGTCCAGATGC	0.597000														69			29		0	0	0.007291	0	0
AXIN1	8312	broad.mit.edu	37	16	360064	360064	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:360064C>T	uc002cgp.2	-	3	1414	c.1025G>A	c.(1024-1026)gGg>gAg	p.G342E	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.G342E	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	342					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.D341fs*73(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGGGGGGATCCCATCCCTGTC	0.627000														5			7		0	0	0.004482	0	0
CD2AP	23607	broad.mit.edu	37	6	47576991	47576991	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:47576991C>T	uc003oyw.3	+	15	2221	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	589					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACTTAGAGCCCAGATTATTGA	0.378000														123			27		0	0	0.006320	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963868	66963868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:66963868G>A	uc003xvs.1	+	2	377	c.86G>A	c.(85-87)gGa>gAa	p.G29E	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	29	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CTGCATAAGGGAGCATCAAAT	0.408000														130			20		0	0	0.001523	0	0
RGNEF	64283	broad.mit.edu	37	5	73045673	73045673	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:73045673G>A	uc010izf.3	+	2	221	c.45G>A	c.(43-45)atG>atA	p.M15I	RGNEF_uc011csq.2_Missense_Mutation_p.M15I|RGNEF_uc003kcy.1_Missense_Mutation_p.M15I|RGNEF_uc021yam.1_Missense_Mutation_p.M15I	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	15					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		GGCAGATGATGATCTATGCGA	0.433000														82			20		0	0	0.001882	0	0
BATF	10538	broad.mit.edu	37	14	76012946	76012946	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:76012946C>T	uc001xrr.3	+	2	552	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	104						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCCTCGCCCCCCGAGGTGGT	0.652000														8			5		0	0	0.001168	0	0
RARS2	57038	broad.mit.edu	37	6	88227908	88227908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:88227908G>A	uc003pme.3	-	16	1550	c.1490C>T	c.(1489-1491)tCa>tTa	p.S497L	RARS2_uc003pmc.3_Missense_Mutation_p.S322L|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	497					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CTGAAGAATTGAAACAGACTG	0.383000														60			29		0	0	0.003271	0	0
MVD	4597	broad.mit.edu	37	16	88719738	88719738	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:88719738G>A	uc002flg.1	-	8	1099	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	CYBA_uc002flb.3_5'Flank|CYBA_uc002fld.1_5'Flank|CYBA_uc010chx.1_5'Flank|CYBA_uc002fle.1_5'Flank|MVD_uc002flf.1_Silent_p.P233P	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	364					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TGACCCCACCGGGGGTCGGCT	0.667000														14			9		0	0	0.008291	0	0
SCAND3	114821	broad.mit.edu	37	6	28543816	28543816	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28543816C>T	uc003nlo.3	-	2	1284	c.666G>A	c.(664-666)atG>atA	p.M222I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	222					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACTTTTCTCTCATGTTTTCTG	0.348000														108			21		0	0	0.001882	0	0
TRPC4	7223	broad.mit.edu	37	13	38320211	38320211	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:38320211C>T	uc010abx.3	-	2	995	c.760G>A	c.(760-762)Gac>Aac	p.D254N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.D254N|TRPC4_uc001uws.3_Missense_Mutation_p.D254N|TRPC4_uc010tey.2_Missense_Mutation_p.D254N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.D254N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	254	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCAGTAGGTCCTTAGCAAAT	0.413000														56			37		0	0	0.005524	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459306	92459306	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:92459306G>A	uc002bqx.2	+	1	465	c.264G>A	c.(262-264)ggG>ggA	p.G88G	SLCO3A1_uc002bqy.2_Silent_p.G88G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G30G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	88					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCGAGATCGGGAACCTGGCGC	0.672000														24			18		0	0	0.008871	0	0
KNG1	3827	broad.mit.edu	37	3	186459557	186459557	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:186459557G>A	uc011bsa.2	+	9	1606	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	458	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCACCAAAGAGGACATGGCCT	0.478000														24			11		0	0	0.001368	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572510	38572510	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38572510C>T	uc002ohk.3	+	2	814	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	102					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCAAGCCCCTCCCAGGACACA	0.662000														79			32		0	0	0.005524	0	0
HERC6	55008	broad.mit.edu	37	4	89311825	89311825	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:89311825G>A	uc011cdi.2	+	3	641	c.458G>A	c.(457-459)gGa>gAa	p.G153E	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.G153E|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTCGTGGGGAAAGAACAGC	0.478000														11			16		0	0	0.006122	0	0
LPHN3	23284	broad.mit.edu	37	4	62845460	62845460	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:62845460C>T	uc010ihh.3	+	14	2954	c.2781C>T	c.(2779-2781)ttC>ttT	p.F927F	LPHN3_uc003hcq.4_Silent_p.F927F|LPHN3_uc003hct.3_Silent_p.F320F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	914					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.L926L(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGCTGCTCTTCCTGATTGGGA	0.453000														141			38		0	0	0.005524	0	0
CLEC11A	6320	broad.mit.edu	37	19	51226853	51226853	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:51226853G>A	uc002psy.3	+	0	249	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	Homo sapiens C-type lectin domain family 11, member A (CLEC11A), mRNA.	24					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGGGCTCggggagcagagagg	0.642000														23			25		0	0	0.002780	0	0
TRIM21	6737	broad.mit.edu	37	11	4410955	4410955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:4410955C>T	uc001lyy.1	-	2	546	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	145					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTTCTCAGTTCCCCTAATGCC	0.463000														49			53		0	0	0.003610	0	0
IL7R	3575	broad.mit.edu	37	5	35876216	35876216	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:35876216G>A	uc003jjs.3	+	7	1097	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	336					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)			AAGAATCTGAGAAGCAGAGGC	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							41			14		0	0	0.004990	0	0
WDR65	149465	broad.mit.edu	37	1	43649261	43649261	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:43649261G>A	uc021omk.1	+	4	621	c.475_splice	c.e4-1	p.V159_splice	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Splice_Site_p.V148_splice|WDR65_uc001ciq.2_Splice_Site_p.V159_splice|WDR65_uc001cip.2_Splice_Site_p.V159_splice	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	159										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACATTTTACAGGTGAGCTTCA	0.373000														34			22		0	0	0.002780	0	0
MYO15A	51168	broad.mit.edu	37	17	18022156	18022156	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:18022156G>A	uc021trm.1	+	0	261	c.42G>A	c.(40-42)ggG>ggA	p.G14G	MYO15A_uc021trl.1_Silent_p.G14G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	14	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)					ccaagaaagggaagaagggga	0.617000														4			3		0	0	0.004672	0	0
INTS1	26173	broad.mit.edu	37	7	1516462	1516462	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:1516462G>A	uc003skn.2	-	35	5132	c.5031C>T	c.(5029-5031)atC>atT	p.I1677I		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1677					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCAGGACTCGGATGCACTGGT	0.657000														76			10		0	0	0.001368	0	0
ABCA13	154664	broad.mit.edu	37	7	48319316	48319316	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:48319316G>A	uc003toq.2	+	17	8549	c.8525G>A	c.(8524-8526)aGa>aAa	p.R2842K	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2842					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTCCACAAGAACTTTGTTT	0.358000														76			45		0	0	0.003610	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858432	43858432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:43858432G>A	uc010skx.2	-	9	1471	c.1471C>T	c.(1471-1473)Ctt>Ttt	p.L491F		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	491	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCAAACGCAAGCTCACACTGC	0.373000														89			36		0	0	0.006230	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18768804	18768804	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:18768804C>T	uc010exr.3	-	1	197	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.E29K|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TTGTCAGATTCCTTTCTTTTT	0.393000														80			34		0	0	0.005524	0	0
ANO7	50636	broad.mit.edu	37	2	242149015	242149015	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:242149015C>T	uc002wax.2	+	12	1589	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	496						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCGCGCGCGCCGCATGCTGGC	0.677000														19			9		0	0	0.006214	0	0
RADIL	55698	broad.mit.edu	37	7	4917288	4917288	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4917288C>G	uc003snj.1	-	1	656	c.483G>C	c.(481-483)aaG>aaC	p.K161N	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	161	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCCGACCTCTTCCTCAGCT	0.602000														297			21		0	0	0.008871	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5631789	5631789	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:5631789G>A	uc001mbf.3	+	6	1246	c.983G>A	c.(982-984)tGg>tAg	p.W328*	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Nonsense_Mutation_p.W274*|TRIM6-TRIM34_uc010qzj.2_Nonsense_Mutation_p.W125*|TRIM6-TRIM34_uc001mbc.2_Nonsense_Mutation_p.W300*|TRIM6-TRIM34_uc001mbe.3_Nonsense_Mutation_p.W125*|TRIM6-TRIM34_uc001mbd.3_Nonsense_Mutation_p.W328*|TRIM6-TRIM34_uc010qzk.2_Nonsense_Mutation_p.W125*|TRIM6-TRIM34_uc010qzl.2_Nonsense_Mutation_p.W125*|TRIM6-TRIM34_uc009yep.1_Silent_p.L168L	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	328						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		CAAAGCTACTGGGGTAAGTAG	0.463000														32			28		0	0	0.004289	0	0
LACC1	144811	broad.mit.edu	37	13	44463057	44463057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:44463057C>T	uc010acg.3	+	4	1557	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	LACC1_uc001uzf.4_Missense_Mutation_p.P358S	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	358																	TAATCTTCATCCTGCATGTGT	0.403000														53			25		0	0	0.005443	0	0
NMT1	4836	broad.mit.edu	37	17	43171163	43171163	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:43171163C>T	uc002ihz.3	+	3	514	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C		NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	166					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				CCTGGGCGATCGTGGTGTGGT	0.602000														28			13		0	0	0.004007	0	0
NDUFB2	4708	broad.mit.edu	37	7	140404669	140404669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:140404669C>T	uc003vwa.3	+	2	317	c.253C>T	c.(253-255)Ccg>Tcg	p.P85S	NDUFB2_uc010lnl.3_Non-coding_Transcript|NDUFB2_uc022amu.1_5'Flank	NM_004546	NP_004537	O95178	NDUB2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA.	85					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	GGGTCACTTTCCGTATCCTGA	0.378000														35			29		0	0	0.001786	0	0
C5orf34	375444	broad.mit.edu	37	5	43502496	43502496	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:43502496G>A	uc003jnz.2	-	5	1532	c.1130C>T	c.(1129-1131)tCt>tTt	p.S377F		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	377										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTTGAATAGAATAATAAGT	0.328000														82			35		0	0	0.004289	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88918036	88918036	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:88918036G>A	uc004aou.3	-	24	4197	c.4059C>T	c.(4057-4059)atC>atT	p.I1353I	ZCCHC6_uc010mqe.3_Silent_p.I253I|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Silent_p.I1353I|ZCCHC6_uc004aot.3_Silent_p.I1117I|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	1353					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGAAGTGTCCGATTTTTCCAC	0.348000														71			52		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202124	140202124	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140202124C>T	uc003lhl.2	+	0	764	c.764C>T	c.(763-765)cCa>cTa	p.P255L	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_Missense_Mutation_p.P255L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.P255L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	271	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P255L(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)			GAAAATGCACCAAGTGGGACA	0.358000														87			16		0	0	0.004007	0	0
TLR1	7096	broad.mit.edu	37	4	38799133	38799133	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:38799133G>A	uc003gtl.3	-	3	1594	c.1320C>T	c.(1318-1320)ttC>ttT	p.F440F	TLR1_uc021xnn.1_Silent_p.F440F	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	440					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GTAAACATCTGAAAATAGTGT	0.328000														156			23		0	0	0.002780	0	0
HSPG2	3339	broad.mit.edu	37	1	22173091	22173091	+	Splice_Site	SNP	G	A	A	rs141870522		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:22173091G>A	uc009vqd.3	-	63	8208	c.8168_splice	c.e63-1	p.A2723_splice	HSPG2_uc001bfj.3_Splice_Site_p.A2722_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2722	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCTGCCAGGGGCTGGGGGAA	0.597000														42			18		0	0	0.002299	0	0
STON2	85439	broad.mit.edu	37	14	81837529	81837529	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:81837529G>A	uc010tvu.2	-	3	572	c.374_splice	c.e3-1	p.A125_splice	STON2_uc001xvk.1_Splice_Site_p.A125_splice	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	125					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAATGGTAGGGCTGGGGAGAG	0.448000														39			22		0	0	0.001523	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954787	10954787	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:10954787C>T	uc001qyv.3	-	0	440	c.383G>A	c.(382-384)aGg>aAg	p.R128K		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	128					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGAAATCACCCTGTCAATTCT	0.423000														10			12		0	0	0.001855	0	0
MYH8	4626	broad.mit.edu	37	17	10300303	10300303	+	Splice_Site	SNP	C	T	T	rs143515663		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:10300303C>T	uc002gmm.2	-	31	4274	c.4179_splice	c.e31-1	p.K1393_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1393					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCAACTTTTTCCTGAAAAGTT	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					18			8		0	0	0.003080	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310222	75310222	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:75310222C>T	uc002azn.2	+	4	492	c.305C>T	c.(304-306)tCc>tTc	p.S102F	SCAMP5_uc002azl.2_Missense_Mutation_p.S102F|SCAMP5_uc002azm.2_Missense_Mutation_p.S102F|SCAMP5_uc002azk.2_Missense_Mutation_p.S102F|SCAMP5_uc010uly.2_Missense_Mutation_p.S31F	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	102					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACTGACAGCTCCTTCAGTTTC	0.592000														50			23		0	0	0.003954	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345564	24345564	+	RNA	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:24345564T>C	uc010edb.1	-	0		c.686A>G								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		GGTTGTGTCCTTATTTCTCCC	0.483000														97			63		0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227922200	227922200	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:227922200C>T	uc021vxr.1	-	27	2601	c.2500G>A	c.(2500-2502)Ggg>Agg	p.G834R	COL4A4_uc021vxs.1_Missense_Mutation_p.G834R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	834	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)		CCTGGTATCCCTGGAGCACCT	0.537000														4			7		0	0	0.003080	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217246	53217246	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:53217246G>A	uc001vgx.1	+	6	1692	c.619G>A	c.(619-621)Gga>Aga	p.G207R	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.G207R|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.G207R|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.G207R	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	207	Gly-rich.				RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						tggtggtcgtggagatggttt	0.527000														19			11		0	0	0.001368	0	0
CACNA1A	773	broad.mit.edu	37	19	13446673	13446673	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:13446673G>A	uc002mwy.3	-	6	1265	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	CACNA1A_uc010xnd.2_Silent_p.L343L|CACNA1A_uc021ups.1_Silent_p.L343L|CACNA1A_uc010xne.2_Silent_p.L343L|CACNA1A_uc010dze.2_Silent_p.L343L|CACNA1A_uc021upt.1_Silent_p.L343L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	343					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CGATGATGATGAGGGGGATGA	0.522000														6			4		0	0	0.001168	0	0
SELE	6401	broad.mit.edu	37	1	169697262	169697262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:169697262C>T	uc001ggm.4	-	7	1373	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	406	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CTTTTGGATCCCTTCAACACA	0.473000														147			40		0	0	0.007835	0	0
STAB2	55576	broad.mit.edu	37	12	104042572	104042572	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:104042572G>A	uc001tjw.3	+	9	1331	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	382	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAATGGCAAGGAAGGCTGACC	0.443000														74			37		0	0	0.006230	0	0
PDE6A	5145	broad.mit.edu	37	5	149294570	149294570	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149294570C>T	uc003lrg.4	-	6	1054	c.934_splice	c.e6-1	p.E312_splice	PDE6A_uc021yfs.1_Splice_Site_p.E231_splice	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	312	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AAGTTAATTTCCTGGCAAAAG	0.368000														58			50		0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55496493	55496493	+	Silent	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55496493T>C	uc021vbq.1	+	6	2220	c.2109T>C	c.(2107-2109)ggT>ggC	p.G703G	NLRP2_uc010yfp.2_Silent_p.G680G|NLRP2_uc002qij.3_Silent_p.G703G|NLRP2_uc010esp.3_Silent_p.G681G|NLRP2_uc010esn.3_Silent_p.G679G|NLRP2_uc010eso.3_Silent_p.G700G	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	703					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCTGATGGGTCTAGCAATCA	0.453000														57			20		0	0	0.001523	0	0
HAS3	3038	broad.mit.edu	37	16	69143862	69143862	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:69143862G>A	uc010cfh.3	+	1	788	c.564G>A	c.(562-564)caG>caA	p.Q188Q	HAS3_uc002ewk.3_Silent_p.Q188Q|HAS3_uc010vlk.1_Silent_p.Q188Q|HAS3_uc002ewl.3_Silent_p.Q188Q	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	188					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GCATCATGCAGAAGTGGGGAG	0.642000														25			13		0	0	0.001855	0	0
NPY2R	4887	broad.mit.edu	37	4	156136099	156136099	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:156136099C>T	uc003ioq.3	+	1	1497	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	NPY2R_uc003ior.3_Silent_p.F336F|NPY2R_uc021xtm.1_Silent_p.F336F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	336					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAGGCTTTCCTCTCGGCCT	0.498000														40			24		0	0	0.004656	0	0
C19orf44	84167	broad.mit.edu	37	19	16613942	16613942	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:16613942A>C	uc002neh.1	+	2	899	c.826A>C	c.(826-828)Aca>Cca	p.T276P	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.T276P|C19orf44_uc002neg.3_Missense_Mutation_p.T276P|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	276										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCCTTCTCAGACATCACACCT	0.502000														30			26		0	0	0.008361	0	0
VN1R2	317701	broad.mit.edu	37	19	53762121	53762121	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:53762121C>T	uc002qbi.2	+	0	577	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	165					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGCAAATTTCTTTTGTATGC	0.453000														42			23		0	0	0.002299	0	0
OXCT2	64064	broad.mit.edu	37	1	40236126	40236126	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:40236126G>A	uc001ceb.1	-	0	895	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	268					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	TTTATCACGCGATCTACATAA	0.537000											OREG0013400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			31		0	0	0.002836	0	0
COL4A3	1285	broad.mit.edu	37	2	228162489	228162489	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:228162489G>A	uc002vom.2	+	41	3827	c.3665G>A	c.(3664-3666)gGa>gAa	p.G1222E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1222	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGCATAGAAGGATTCCCAGGG	0.602000														5			4		0	0	0.000248	0	0
OS9	10956	broad.mit.edu	37	12	58113946	58113946	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:58113946G>A	uc001spj.3	+	12	1872	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Silent_p.Q540Q|OS9_uc001spl.3_Intron|OS9_uc001spm.3_Intron|OS9_uc001spn.3_Intron|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Intron	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	555					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCCCTAATCAGGATCTGACTG	0.577000														71			46		0	0	0.003214	0	0
AKAP6	9472	broad.mit.edu	37	14	33147646	33147646	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:33147646C>T	uc001wrq.3	+	7	3030	c.2860C>T	c.(2860-2862)Cat>Tat	p.H954Y	AKAP6_uc010aml.3_Missense_Mutation_p.H951Y	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	954					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)		GTCAAAAGTTCATTCAGTGGG	0.408000														28			17		0	0	0.007413	0	0
COL4A2	1284	broad.mit.edu	37	13	111111269	111111269	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:111111269C>T	uc001vqx.3	+	21	1873	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	528	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCCTGGGTTCCCAGGGCTCA	0.597000														2			4		0	0	0.000248	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380942	28380942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:28380942G>A	uc002het.3	+	9	2162	c.1970G>A	c.(1969-1971)gGa>gAa	p.G657E	EFCAB5_uc010wbi.1_Missense_Mutation_p.G400E|EFCAB5_uc010wbj.2_Missense_Mutation_p.G601E|EFCAB5_uc010wbk.2_Missense_Mutation_p.G314E|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.G536E|EFCAB5_uc010csf.3_Missense_Mutation_p.G536E	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	657							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGACCTTATGGAGAGATAATT	0.388000														24			43		0	0	0.002222	0	0
RDBP	7936	broad.mit.edu	37	6	31922080	31922080	+	Silent	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31922080G>T	uc003nyk.3	-	7	1086	c.882C>A	c.(880-882)ccC>ccA	p.P294P	RDBP_uc011dot.2_Silent_p.P264P	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	294	RRM.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CTTACTTTCTGGGTGGGTCCA	0.522000														883			17		2.31682e-05	3.44949e-05	0.003163	1	0
PRKACG	5568	broad.mit.edu	37	9	71628097	71628097	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:71628097G>A	uc004agy.3	-	0	943	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	304	AGC-kinase C-terminal.				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						CATAGATGGCGATCCAGCTGG	0.572000														93			24		0	0	0.004656	0	0
CELSR3	1951	broad.mit.edu	37	3	48669454	48669454	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:48669454G>A	uc003cuf.1	-	41	10824	c.10824C>T	c.(10822-10824)ttC>ttT	p.F3608F	CELSR3_uc003cug.3_Silent_p.F182F|CELSR3_uc011bbp.2_Missense_Mutation_p.R169W|CELSR3_uc010hke.3_Silent_p.F54F|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.F203F|CELSR3_uc003cui.3_Silent_p.F203F|CELSR3_uc003cuj.3_Silent_p.F203F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					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)		CCACGAAGCCGAAGTGGATCA	0.612000														57			10		0	0	0.001368	0	0
BAI1	575	broad.mit.edu	37	8	143623563	143623563	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:143623563G>A	uc003ywm.3	+	26	4151	c.3968G>A	c.(3967-3969)gGg>gAg	p.G1323E		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1323					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCGGTGACGGGGACATCTTC	0.672000														168			28		0	0	0.007291	0	0
LSM14B	149986	broad.mit.edu	37	20	60701364	60701364	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:60701364C>T	uc010gjy.1	+	2	502	c.296C>T	c.(295-297)tCc>tTc	p.S99F	LSM14B_uc002ybt.2_Missense_Mutation_p.S99F|LSM14B_uc010gjx.1_Missense_Mutation_p.S125F|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	99					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTTCAGTCTTCCCTGGGTTCT	0.652000														23			10		0	0	0.001368	0	0
LINGO2	158038	broad.mit.edu	37	9	27950484	27950484	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:27950484C>T	uc003zqv.1	-	6	836	c.186G>A	c.(184-186)ttG>ttA	p.L62L	LINGO2_uc010mjf.1_Silent_p.L62L|LINGO2_uc003zqu.1_Silent_p.L62L|LINGO2_uc022bfc.1_Silent_p.L62L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	62						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TACTGAGGTCCAAGATTTTGG	0.468000														58			39		0	0	0.006230	0	0
STRC	161497	broad.mit.edu	37	15	43893725	43893725	+	Missense_Mutation	SNP	G	A	A	rs147990592		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:43893725G>A	uc001zsf.3	-	23	4648	c.4570C>T	c.(4570-4572)Cgt>Tgt	p.R1524C	STRC_uc010bdl.3_Missense_Mutation_p.R751C|STRC_uc001zse.3_Missense_Mutation_p.R42C	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1524					sensory perception of sound	cell surface		p.R1524G(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCTCAGGACGAAATCCCCGG	0.532000														21			17		0	0	0.006122	0	0
CST9L	128821	broad.mit.edu	37	20	23549030	23549030	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:23549030C>T	uc002wtk.4	-	0	357	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	20						extracellular region	cysteine-type endopeptidase inhibitor activity	p.G20C(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATCTGGGAGCCTAAGAGAAGC	0.582000														30			11		0	0	0.001855	0	0
MSI1	4440	broad.mit.edu	37	12	120794811	120794811	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:120794811C>T	uc001tye.1	-	8	610	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	182	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGAGCTTTCTTACATTCCA	0.532000											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			22		0	0	0.003954	0	0
ZNF687	57592	broad.mit.edu	37	1	151262009	151262009	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:151262009A>G	uc001exq.3	+	4	2725	c.2627A>G	c.(2626-2628)cAt>cGt	p.H876R	ZNF687_uc009wmo.3_Missense_Mutation_p.H876R|ZNF687_uc009wmp.3_Missense_Mutation_p.H876R	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	876					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGCTGGAACATCTCAAGGTA	0.557000														89			19		0	0	0.001882	0	0
FBXL22	283807	broad.mit.edu	37	15	63893549	63893549	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:63893549G>A	uc002amn.3	+	1	448	c.390G>A	c.(388-390)ggG>ggA	p.G130G	LOC100130855_uc002amk.3_5'Flank|LOC100130855_uc002amj.3_5'Flank	NM_203373	NP_976307	Q6P050	FXL22_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 22 (FBXL22), mRNA.	130										lung(4)	4						CGTCCTCGGGGACTCCGATCG	0.687000														18			13		0	0	0.001368	0	0
REG1P	5969	broad.mit.edu	37	2	79363152	79363152	+	RNA	SNP	C	T	T	rs75820374	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:79363152C>T	uc002soa.1	-	3		c.1162G>A			REG1P_uc002sob.1_Non-coding_Transcript|REG1P_uc002soc.1_Non-coding_Transcript					Homo sapiens mRNA for Reg-related sequence derived peptide-1, complete cds.																		ATCCAATGTCCCAGGATTTGT	0.522000														12			4		0	0	0.000602	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151206843	151206843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:151206843G>A	uc021zgs.1	+	5	760	c.616G>A	c.(616-618)Gct>Act	p.A206T	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Missense_Mutation_p.A206T|MTHFD1L_uc021zgt.1_Missense_Mutation_p.A140T|MTHFD1L_uc003qoc.3_Missense_Mutation_p.A153T|MTHFD1L_uc003qoa.2_Missense_Mutation_p.A206T|MTHFD1L_uc010kil.2_Non-coding_Transcript	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	206	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGTTGCCAAAGCTGTAATTGA	0.368000														42			29		0	0	0.006320	0	0
PHLPP2	23035	broad.mit.edu	37	16	71736601	71736601	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:71736601G>A	uc002fax.3	-	1	324	c.318C>T	c.(316-318)atC>atT	p.I106I	PHLPP2_uc010cgf.3_Silent_p.I106I|PHLPP2_uc002fay.1_Silent_p.I106I	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	106						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATCATAAACGATCTGAAGAG	0.363000														46			20		0	0	0.003330	0	0
TRPV4	59341	broad.mit.edu	37	12	110252389	110252389	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:110252389G>A	uc001tpj.2	-	0	308	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TRPV4_uc001tpg.2_Silent_p.F37F|TRPV4_uc021rdp.1_Silent_p.F71F|TRPV4_uc001tph.2_Silent_p.F71F|TRPV4_uc001tpi.2_Silent_p.F71F|TRPV4_uc001tpk.2_Silent_p.F71F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	71					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGCGCCCTGGAACTTCATGC	0.632000														28			9		0	0	0.006214	0	0
PCNT	5116	broad.mit.edu	37	21	47864622	47864622	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:47864622A>G	uc002zji.4	+	45	9962	c.9855A>G	c.(9853-9855)ccA>ccG	p.P3285P	PCNT_uc002zjj.3_Silent_p.P3088P	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3285					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTCCATCCCCAAATTCAAGAT	0.403000														26			16		0	0	0.004990	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567497	140567497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140567497G>A	uc003liw.1	+	0	605	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	202	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACTGGATCGGGAGGAGCAG	0.488000														138			94		0	0	0.003610	0	0
NMU	10874	broad.mit.edu	37	4	56466727	56466727	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:56466727G>A	uc003hbc.3	-	7	557	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	NMU_uc003hbd.1_Non-coding_Transcript|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Missense_Mutation_p.P66S|NMU_uc010igx.1_Non-coding_Transcript	NM_006681	NP_006672	P48645	NMU_HUMAN	Homo sapiens neuromedin U (NMU), mRNA.	151					neuropeptide signaling pathway	extracellular region				lung(3)|ovary(1)|urinary_tract(1)	5	Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.103)	LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559)	LUSC - Lung squamous cell carcinoma(721;0.0115)		CTTGCAAAGGGACTTTGGAAT	0.313000														44			21		0	0	0.001882	0	0
GPR149	344758	broad.mit.edu	37	3	154055952	154055952	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:154055952C>T	uc003faa.3	-	3	1832	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	578						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTGCCCTTCTGCGCTTACC	0.448000														113			52		0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123118412	123118412	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:123118412T>A	uc003ieh.3	+	10	1316	c.1271T>A	c.(1270-1272)aTg>aAg	p.M424K	KIAA1109_uc003iei.1_Missense_Mutation_p.M178K|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	424					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATATTCCAATGACAGTTGAA	0.244000														21			20		0	0	0.003330	0	0
COL6A1	1291	broad.mit.edu	37	21	47419593	47419593	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:47419593C>T	uc002zhu.1	+	26	1865	c.1763C>T	c.(1762-1764)cCg>cTg	p.P588L	COL6A1_uc002zhv.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	588	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CACCAAGGACCGCCTGGGCCG	0.637000														14			6		0	0	0.003080	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890624	2890624	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:2890624C>T	uc003mug.3	-	6	1025	c.904G>A	c.(904-906)Gca>Aca	p.A302T	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.A105T	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	302					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGACATTGCCGACAAGTCA	0.502000														157			26		0	0	0.004656	0	0
METTL19	152992	broad.mit.edu	37	4	8472850	8472850	+	Missense_Mutation	SNP	C	T	T	rs146322919	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:8472850C>T	uc003glg.2	+	9	1985	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	METTL19_uc003glh.1_Missense_Mutation_p.T264M|METTL19_uc003gli.1_5'Flank	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	656					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GAGCTGGACACGGAGACCCTG	0.567000														217			34		0	0	0.003755	0	0
SPEN	23013	broad.mit.edu	37	1	16262683	16262683	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:16262683C>T	uc001axk.1	+	10	10152	c.9948C>T	c.(9946-9948)ccC>ccT	p.P3316P	SPEN_uc010obp.1_Silent_p.P3275P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3316	Pro-rich.				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)		CCTACCACCCCCCGGCCCAGC	0.632000														42			13		0	0	0.003163	0	0
TRGV3	6976	broad.mit.edu	37	7	38398154	38398154	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:38398154C>T	uc003tgr.2	-	1	416	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	LOC100506776_uc003tgp.2_Intron					RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor;																		GAATCATTTTCAATTAGATTT	0.483000														60			34		0	0	0.003755	0	0
HEPHL1	341208	broad.mit.edu	37	11	93797567	93797567	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:93797567G>A	uc001pep.2	+	3	856	c.699G>A	c.(697-699)gtG>gtA	p.V233V		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	233	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTACTCTTGTGGATGAGAATC	0.393000														18			21		0	0	0.001882	0	0
REV3L	5980	broad.mit.edu	37	6	111632369	111632369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:111632369C>T	uc003puy.4	-	28	9039	c.8698G>A	c.(8698-8700)Gga>Aga	p.G2900R	REV3L_uc003pux.4_Missense_Mutation_p.G2822R|REV3L_uc003puz.4_Missense_Mutation_p.G2822R|REV3L_uc003pva.1_Non-coding_Transcript|REV3L_uc003puw.4_5'Flank	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2900					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGGCCTTTCCTTCCAGAAGC	0.383000								DNA polymerases (catalytic subunits)						124			49		0	0	0.003610	0	0
DOPEY1	23033	broad.mit.edu	37	6	83810447	83810448	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:83810447_83810448CC>TT	uc011dyy.2	+	3	422_423	c.162_163CC>TT	c.(160-165)taccaa>taTTaa	p.Q55*	DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q55*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q55*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	55					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATGCAAAGTACCAAGTAGTACC	0.361000														71			44		0	0	0.004672	0	0
IRF6	3664	broad.mit.edu	37	1	209963884	209963884	+	Missense_Mutation	SNP	C	T	T	rs121434231		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:209963884C>T	uc001hhq.2	-	6	1320	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K	IRF6_uc010psm.2_Missense_Mutation_p.R244K	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	339			R -> I (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTCTTTTGTCTCTCAATCAG	0.478000										HNSCC(57;0.16)				80			19		0	0	0.007413	0	0
C4B	721	broad.mit.edu	37	6	31964370	31964370	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31964370G>A	uc011doy.2	+	27	3720	c.3669G>A	c.(3667-3669)gaG>gaA	p.E1223E	C4B_uc011doz.2_Silent_p.E1223E	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1223					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCCCAGGAGACTGGAGGTG	0.637000														154			11		0	0	0.001855	0	0
SPINK5	11005	broad.mit.edu	37	5	147470749	147470749	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:147470749C>T	uc003lox.2	+	7	697	c.624C>T	c.(622-624)gcC>gcT	p.A208A	SPINK5_uc010jgq.1_Non-coding_Transcript|SPINK5_uc010jgs.1_Silent_p.A180A|SPINK5_uc010jgr.2_Silent_p.A189A|SPINK5_uc003low.2_Silent_p.A208A|SPINK5_uc003loy.2_Silent_p.A208A	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	208	Kazal-like 3.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAAAATGCCAAGCGAGAGG	0.348000														12			5		0	0	0.000602	0	0
GALNTL2	117248	broad.mit.edu	37	3	16252704	16252704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:16252704C>T	uc003car.4	+	4	1628	c.1153C>T	c.(1153-1155)Ctt>Ttt	p.L385F	GALNTL2_uc003caq.4_Missense_Mutation_p.L118F	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	385	Catalytic subdomain B.					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						GTATGACTCTCTTATGTCGCT	0.542000														61			21		0	0	0.002780	0	0
FLRT3	23767	broad.mit.edu	37	20	14306424	14306424	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:14306424C>T	uc021war.1	-	0	1729	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.E577K|FLRT3_uc002wow.2_Missense_Mutation_p.E577K	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	577					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTGCCAGCTTCTGCATAGTCA	0.428000														131			39		0	0	0.006230	0	0
LRRC7	57554	broad.mit.edu	37	1	70460305	70460305	+	Silent	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:70460305T>C	uc001dep.3	+	8	909	c.879T>C	c.(877-879)aaT>aaC	p.N293N	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	293						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						TGCTACCCAATACAATTGGAA	0.328000														77			37		0	0	0.006999	0	0
AFF3	3899	broad.mit.edu	37	2	100167981	100167982	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:100167981_100167982GG>AA	uc002taf.3	-	23	3854_3855	c.3710_3711CC>TT	c.(3709-3711)tcc>tTT	p.S1237F	AFF3_uc002tag.3_Missense_Mutation_p.S1212F	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1212					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCCCTGTTGGGAGTACTGGAC	0.589000														17			10		0	0	0.004672	0	0
FHOD3	80206	broad.mit.edu	37	18	34335241	34335241	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:34335241G>A	uc021uiv.1	+	24	4489	c.4392G>A	c.(4390-4392)gaG>gaA	p.E1464E	FHOD3_uc002kzs.1_Silent_p.E1289E|FHOD3_uc002kzt.1_Silent_p.E1272E|FHOD3_uc010dmz.1_Silent_p.E1004E|FHOD3_uc010dnb.1_Silent_p.E268E	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1272					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCACAGAGAGAGAAATAAGA	0.423000														8			7		0	0	0.003080	0	0
LRBA	987	broad.mit.edu	37	4	151749500	151749500	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:151749500G>A	uc010ipj.3	-	29	5247	c.5003C>T	c.(5002-5004)cCg>cTg	p.P1668L	LRBA_uc003ilt.4_Missense_Mutation_p.P327L|LRBA_uc003ilu.4_Missense_Mutation_p.P1668L	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1668						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)					TGAAACTGACGGTGTAGCCTT	0.433000														29			21		0	0	0.001882	0	0
IGF1R	3480	broad.mit.edu	37	15	99500576	99500576	+	Missense_Mutation	SNP	C	T	T	rs141802822	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:99500576C>T	uc002bul.3	+	20	4059	c.4009C>T	c.(4009-4011)Cgc>Tgc	p.R1337C	IGF1R_uc010bon.3_Missense_Mutation_p.R1336C	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1337					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)	GCTGGTCCTCCGCGCCAGCTT	0.687000														15			11		0	0	0.000978	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765793	77765793	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:77765793C>T	uc003yau.2	+	9	7023	c.6636C>T	c.(6634-6636)ccC>ccT	p.P2212P	ZFHX4_uc003yaw.1_Silent_p.P2167P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2167						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCACAGCCCACCTCTTTAG	0.373000										HNSCC(33;0.089)				132			31		0	0	0.001786	0	0
GIGYF2	26058	broad.mit.edu	37	2	233721532	233721532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:233721532C>T	uc002vtj.4	+	30	4192	c.3925C>T	c.(3925-3927)Ctc>Ttc	p.L1309F	GIGYF2_uc002vti.4_Missense_Mutation_p.L1288F|GIGYF2_uc002vtk.4_Missense_Mutation_p.L1288F|GIGYF2_uc002vth.4_Missense_Mutation_p.L1282F|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc002vtq.4_Missense_Mutation_p.L621F	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1288					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCGGAGCGACTCAACATGGG	0.527000														34			21		0	0	0.003330	0	0
AOAH	313	broad.mit.edu	37	7	36616207	36616207	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:36616207T>G	uc022abu.1	-	12	1395	c.994A>C	c.(994-996)Agg>Cgg	p.R332R	AOAH_uc003tfh.4_Silent_p.R332R|AOAH_uc011kba.2_Silent_p.R300R	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	332					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGGTAGTCCCTGTGATTACAG	0.303000														68			38		0	0	0.006999	0	0
PHKA1	5255	broad.mit.edu	37	X	71802346	71802346	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:71802346G>A	uc004eax.4	-	30	3701	c.3400C>T	c.(3400-3402)Ctc>Ttc	p.L1134F	PHKA1_uc004eay.4_Missense_Mutation_p.L1121F|PHKA1_uc011mqi.2_Missense_Mutation_p.L1062F|PHKA1_uc010nll.3_Missense_Mutation_p.L166F	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1134					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.V1133L(1)		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)					AGCATGGTGAGGACAAGGATG	0.453000														3			20		0	0	0.008871	0	0
WDR47	22911	broad.mit.edu	37	1	109525357	109525357	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:109525357A>G	uc001dwl.3	-	11	2540	c.2164T>C	c.(2164-2166)Ttg>Ctg	p.L722L	WDR47_uc001dwi.3_Silent_p.L715L|WDR47_uc001dwj.3_Silent_p.L714L|WDR47_uc010ovf.2_Silent_p.L639L	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	714										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATAAATGCCAAGTCTCTAATT	0.388000														428			167		0	0	0.003610	0	0
C14orf101	54916	broad.mit.edu	37	14	57099831	57099832	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:57099831_57099832CC>TT	uc001xcm.3	+	12	1788_1789	c.1666_1667CC>TT	c.(1666-1668)cct>TTt	p.P556F	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Missense_Mutation_p.P89F|C14orf101_uc001xco.3_Missense_Mutation_p.P89F	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	556						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		TGTATTCAACCCTGAGGAATGG	0.381000														32			13		0	0	0.004672	0	0
ANTXR1	84168	broad.mit.edu	37	2	69397402	69397403	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:69397402_69397403CC>TT	uc002sfg.3	+	13	1426_1427	c.1070_1071CC>TT	c.(1069-1071)ccc>cTT	p.P357L	ANTXR1_uc002sff.3_Missense_Mutation_p.P357L	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	357					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTCCCTCCACCCCCTGCCGAGG	0.559000									Familial Infantile Hemangioma					32			11		0	0	0.004672	0	0
OR8B8	26493	broad.mit.edu	37	11	124310103	124310103	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:124310103C>T	uc010sal.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CGTCCTTATTCCTCAGGCTAT	0.408000														22			19		0	0	0.008871	0	0
HTR1F	3355	broad.mit.edu	37	3	88040541	88040541	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:88040541G>A	uc003dqr.2	+	1	800	c.642G>A	c.(640-642)aaG>aaA	p.K214K	HTR1F_uc021xbd.1_Silent_p.K214K	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	214					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)	TATACCACAAGAGACAAGCAA	0.403000														55			16		0	0	0.004007	0	0
EBF3	253738	broad.mit.edu	37	10	131761695	131761695	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:131761695T>C	uc021qav.1	-	1	286	c.185A>G	c.(184-186)gAt>gGt	p.D62G	EBF3_uc001lki.2_Missense_Mutation_p.D76G|EBF3_uc010qur.1_Missense_Mutation_p.D62G	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	76					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCCCTGCCTATCGTAGAGCGC	0.572000														60			39		0	0	0.002222	0	0
RNF220	55182	broad.mit.edu	37	1	44878025	44878025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:44878025C>T	uc001clv.1	+	1	616	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	RNF220_uc001clw.1_Missense_Mutation_p.R86C	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	86					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.R86L(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						TTTTGCCAATCGTGATTTCCC	0.507000														189			76		0	0	0.003610	0	0
MYO6	4646	broad.mit.edu	37	6	76551093	76551093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:76551093C>T	uc003pih.1	+	8	1093	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	MYO6_uc003pig.1_Missense_Mutation_p.R272W|MYO6_uc003pii.1_Missense_Mutation_p.R272W	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	272	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGATAATTTTCGGGTAGGTCA	0.413000														21			13		0	0	0.001368	0	0
FAT4	79633	broad.mit.edu	37	4	126371652	126371652	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:126371652G>A	uc003ifj.4	+	8	9481	c.9481G>A	c.(9481-9483)Gaa>Aaa	p.E3161K	FAT4_uc011cgp.2_Missense_Mutation_p.E1459K|FAT4_uc003ifi.1_Missense_Mutation_p.E639K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3161	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAAACACGAAATGACGAT	0.378000														31			22		0	0	0.003954	0	0
AK022382	0	broad.mit.edu	37	10	52390795	52390795	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:52390795C>T	uc001jjf.1	+	1		c.1488C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		GGTAAAAATTCCTTTATCTGC	0.488000														12			4		0	0	0.000248	0	0
BRSK1	84446	broad.mit.edu	37	19	55816891	55816891	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55816891C>T	uc002qkf.3	+	17	2002	c.1875C>T	c.(1873-1875)ttC>ttT	p.F625F	BRSK1_uc002qkg.3_Silent_p.F609F|BRSK1_uc002qkh.3_Silent_p.F304F	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	609					G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AACAAATATTCCTCGTGCTAA	0.572000														128			56		0	0	0.003610	0	0
LOC646214	646214	broad.mit.edu	37	15	21937740	21937740	+	RNA	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:21937740G>A	uc010tzj.1	-	0		c.3000C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCACTGTGTTGGAGTCGTAGA	0.488000														41			14		0	0	0.001855	0	0
LILRB2	10288	broad.mit.edu	37	19	54784319	54784319	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54784319G>A	uc002qfb.3	-	2	300	c.34_splice	c.e2+1	p.G12_splice	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Splice_Site_p.G12_splice|LILRB2_uc010erj.3_Splice_Site|LILRB2_uc002qfc.3_Splice_Site_p.G12_splice|LILRB2_uc010yet.2_Splice_Site|LILRB2_uc010yeu.1_Splice_Site|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	12					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAATCTCACCGAGACAGATCA	0.597000														80			33		0	0	0.003271	0	0
SURF6	6838	broad.mit.edu	37	9	136199576	136199576	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:136199576G>A	uc004cdb.4	-	3	492	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_006753	NP_006744	O75683	SURF6_HUMAN	Homo sapiens surfeit 6 (SURF6), mRNA.	138						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		AGGCGGCAGGGGACAGCTCCT	0.602000														31			23		0	0	0.002780	0	0
AADACL3	126767	broad.mit.edu	37	1	12785820	12785820	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:12785820G>A	uc009vnn.1	+	3	1143	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	AADACL3_uc001aug.1_Missense_Mutation_p.E234K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	304							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAAGGCTGGAAGACCTGGG	0.517000														62			21		0	0	0.001523	0	0
OR8J1	219477	broad.mit.edu	37	11	56128658	56128658	+	Silent	SNP	C	T	T	rs148720229		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:56128658C>T	uc010rjh.2	+	0	968	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S312S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGTGCTATTCCTTTAAAACAA	0.353000														105			12		0	0	0.000978	0	0
SERPINA3	12	broad.mit.edu	37	14	95081190	95081190	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:95081190G>A	uc001ydp.3	+	1	571	c.412G>A	c.(412-414)Gga>Aga	p.G138R	SERPINA3_uc001ydo.4_Missense_Mutation_p.G163R|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.G138R|SERPINA3_uc001yds.3_Missense_Mutation_p.G138R	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	138					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.G138E(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GCTGAGTATGGGAAATGCCAT	0.537000														17			8		0	0	0.003080	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58598357	58598357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:58598357C>T	uc010yht.1	-	4	859	c.829G>A	c.(829-831)Gag>Aag	p.E277K	ZSCAN18_uc002qrj.3_Missense_Mutation_p.E221K|ZSCAN18_uc010yhs.1_Missense_Mutation_p.E86K|ZSCAN18_uc002qrh.2_Missense_Mutation_p.E221K|ZSCAN18_uc002qri.2_Missense_Mutation_p.E221K|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	221					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGAGGGTCCTCTGGAAAGGAC	0.637000														57			8		0	0	0.004482	0	0
OR2J2	26707	broad.mit.edu	37	6	29141649	29141649	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29141649C>T	uc011dlm.2	+	0	339	c.237C>T	c.(235-237)atC>atT	p.I79I		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CCAGCTCTATCCCTCAGTTGC	0.483000														251			43		0	0	0.007835	0	0
OR8J1	219477	broad.mit.edu	37	11	56128611	56128611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:56128611G>A	uc010rjh.2	+	0	921	c.889G>A	c.(889-891)Gat>Aat	p.D297N		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GAGGAATAAGGATGTGAAGAC	0.363000														153			19		0	0	0.001523	0	0
SLC38A8	146167	broad.mit.edu	37	16	84063101	84063101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:84063101G>A	uc002fhg.1	-	4	688	c.688C>T	c.(688-690)Cag>Tag	p.Q230*		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	230					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAAATTACCTGAAACCCGAAG	0.522000														29			7		0	0	0.001984	0	0
CACNA1B	774	broad.mit.edu	37	9	141012397	141012397	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:141012397G>A	uc004cog.3	+	42	5917	c.5772_splice	c.e42-1	p.I1924_splice	CACNA1B_uc022bqn.1_Splice_Site_p.I1924_splice|CACNA1B_uc004coi.3_Splice_Site_p.I1138_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1926					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTCTGCCACAGACAAAACCAA	0.567000														0			12		0	0	0.002450	0	0
CAPN13	92291	broad.mit.edu	37	2	30987150	30987150	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:30987150G>A	uc021vfn.1	-	4	579	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	CAPN13_uc021vfm.1_Silent_p.L183L|CAPN13_uc002rnp.1_Silent_p.L183L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	183	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCATAGTGCAGATCGGAATAG	0.582000														24			7		0	0	0.003080	0	0
COL16A1	1307	broad.mit.edu	37	1	32133812	32133812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:32133812G>A	uc001btk.1	-	50	3622	c.3257C>T	c.(3256-3258)cCa>cTa	p.P1086L	COL16A1_uc001btj.1_Missense_Mutation_p.P884L	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1086	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)		TGGTTGCCCTGGAGGACCCTG	0.602000														38			17		0	0	0.002299	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:108682428C>T	uc003dxl.3	-	26	2719	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_uc011bhn.2_Missense_Mutation_p.E857K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E878D(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTTTTTTTTCATATTGGACC	0.279000														34			17		0	0	0.008871	0	0
EMR1	2015	broad.mit.edu	37	19	6908774	6908774	+	Silent	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:6908774T>A	uc002mfw.3	+	9	1151	c.1113T>A	c.(1111-1113)gtT>gtA	p.V371V	EMR1_uc010dvc.3_Silent_p.V371V|EMR1_uc010dvb.3_Silent_p.V319V|EMR1_uc010xji.2_Silent_p.V230V|EMR1_uc010xjj.2_Silent_p.V194V	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	371	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CGACCGTAGTTTCTCTGAAGG	0.398000														29			24		0	0	0.003330	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67220397	67220397	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:67220397G>A	uc001dcv.3	+	1	187	c.56G>A	c.(55-57)gGg>gAg	p.G19E	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	19										large_intestine(2)|lung(10)|skin(1)	13						AAGAAAAGAGGGAGTATTTCT	0.353000														10			14		0	0	0.003163	0	0
OR5H2	79310	broad.mit.edu	37	3	98002321	98002321	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:98002321C>T	uc003dsj.1	+	0	590	c.590C>T	c.(589-591)cCt>cTt	p.P197L		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P197H(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTACTGACCCTTCTATTAAT	0.308000														61			25		0	0	0.003330	0	0
GPR179	440435	broad.mit.edu	37	17	36486596	36486596	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:36486596C>T	uc002hpz.3	-	10	2877	c.2856G>A	c.(2854-2856)agG>agA	p.R952R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	952						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGATAGCATCCTTGGCTCTC	0.627000														3			9		0	0	0.004482	0	0
LHX1	3975	broad.mit.edu	37	17	35300134	35300134	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:35300134G>A	uc002hnh.2	+	4	1650	c.927G>A	c.(925-927)gtG>gtA	p.V309V		NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	309					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGACACCAGTGGACCTACCCT	0.716000														1			6		0	0	0.001168	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670590	101670590	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:101670590G>A	uc010fiv.3	-	3	697	c.566C>T	c.(565-567)tCc>tTc	p.S189F	TBC1D8_uc010yvw.2_Missense_Mutation_p.S204F|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	189	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CAGGAAGAAGGAGTAGAAGCA	0.597000														6			6		0	0	0.001168	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678675	3678675	+	Missense_Mutation	SNP	G	A	A	rs143548718		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3678675G>A	uc002wja.3	-	7	1892	c.1892C>T	c.(1891-1893)cCc>cTc	p.P631L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P631L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	631	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGCCTGGCGGGGGGGTCGCT	0.667000														17			8		0	0	0.003080	0	0
TDRD6	221400	broad.mit.edu	37	6	46665773	46665773	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:46665773C>T	uc003oyj.3	+	2	6464	c.6210C>T	c.(6208-6210)aaC>aaT	p.N2070N	TDRD6_uc010jze.3_Intron	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	2070	Tudor 8.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAGTGAACCCTGAGAATG	0.338000														297			49		0	0	0.003610	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853643	42853644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:42853643_42853644CC>TT	uc010skv.2	-	7	2750_2751	c.2463_2464GG>AA	c.(2461-2466)aaggga>aaAAga	p.G822R	PRICKLE1_uc001rnl.3_Missense_Mutation_p.G822R|PRICKLE1_uc010skw.2_Missense_Mutation_p.G822R|PRICKLE1_uc001rnm.3_Missense_Mutation_p.G822R|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	822					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		CCCTTGTGTCCCTTTTTCTTCT	0.401000														103			22		0	0	0.004672	0	0
RALBP1	10928	broad.mit.edu	37	18	9533743	9533743	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:9533743C>A	uc002kob.3	+	8	1843	c.1620C>A	c.(1618-1620)tcC>tcA	p.S540S	RALBP1_uc002koc.3_Silent_p.S540S	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	540					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGTACTCCTCCGAGAGCGAGA	0.527000														53			25		2.24059e-21	3.36653e-21	0.006320	1	0
MIR596	693181	broad.mit.edu	37	8	1765429	1765429	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:1765429C>T	uc022aqo.1	+	0		c.33C>T								Homo sapiens microRNA 596 (MIR596), microRNA.																		CCCGGCTCCTCGGGAACCTGC	0.622000														23			9		0	0	0.006214	0	0
TET2	54790	broad.mit.edu	37	4	106156057	106156057	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:106156057G>A	uc011cez.2	+	2	1426	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	TET2_uc003hxk.3_Missense_Mutation_p.E320K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.E320K|TET2_uc010ilp.2_Missense_Mutation_p.E320K|TET2_uc021xql.1_Missense_Mutation_p.E320K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	320					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.Q341fs*6(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGAAACCAGAACAACTACA	0.433000			"""Mis N, F"""		MDS									14			10		0	0	0.001368	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631072	6631072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:6631072G>A	uc001ant.3	+	1	391	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	TAS1R1_uc001anu.3_Missense_Mutation_p.G99R|TAS1R1_uc021ofp.1_Missense_Mutation_p.G21R	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	99					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CATCACCCTGGGGTACCAGCT	0.547000														113			55		0	0	0.003610	0	0
IL1R1	3554	broad.mit.edu	37	2	102793021	102793021	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:102793021A>T	uc002tbq.3	+	11	1830	c.1512A>T	c.(1510-1512)aaA>aaT	p.K504N	IL1R1_uc010fix.3_Missense_Mutation_p.K473N|IL1R1_uc002tbr.3_Missense_Mutation_p.K504N	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	504	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AATCGATTAAATTCATTAAGC	0.428000														11			11		0	0	0.001368	0	0
NBR1	4077	broad.mit.edu	37	17	41341698	41341698	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:41341698C>T	uc010whv.2	+	7	657	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S	NBR1_uc010czd.3_Missense_Mutation_p.P192S|NBR1_uc010diz.3_Missense_Mutation_p.P192S|NBR1_uc010whu.2_Missense_Mutation_p.P192S|NBR1_uc010whw.2_Missense_Mutation_p.P171S|NBR1_uc010whx.1_5'Flank	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	192					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GGGTTCTTGTCCCTCAGAAGT	0.418000														115			44		0	0	0.002852	0	0
ENTPD1	953	broad.mit.edu	37	10	97602187	97602187	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:97602187C>T	uc010qoj.2	+	3	448	c.385C>T	c.(385-387)Cca>Tca	p.P129S	ENTPD1_uc001kle.1_Missense_Mutation_p.P124S|ENTPD1_uc001kli.4_Missense_Mutation_p.P124S|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.P9S|ENTPD1_uc010qol.2_Missense_Mutation_p.P9S|ENTPD1_uc001klh.4_Missense_Mutation_p.P117S|ENTPD1_uc010qom.2_Missense_Mutation_p.P117S|ENTPD1_uc010qon.2_Intron|ENTPD1_uc009xva.3_Intron	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	117					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGAAGTGATTCCAAGGTCCCA	0.473000														48			29		0	0	0.001786	0	0
EIF3B	8662	broad.mit.edu	37	7	2412393	2412393	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2412393C>T	uc003slx.3	+	11	1856	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	EIF3B_uc003sly.3_Silent_p.F591F|EIF3B_uc003sma.3_Silent_p.F319F	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	591					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CTGTGTCTTTCTACCACGTCA	0.473000														134			6		0	0	0.001168	0	0
GPR85	54329	broad.mit.edu	37	7	112724432	112724432	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:112724432G>C	uc010ljv.2	-	1	862	c.345C>G	c.(343-345)atC>atG	p.I115M	GPR85_uc003vgp.1_Missense_Mutation_p.I115M|GPR85_uc003vgq.2_Missense_Mutation_p.I115M|GPR85_uc010ljw.1_Missense_Mutation_p.I115M|GPR85_uc022akd.1_Missense_Mutation_p.I115M	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	115						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGGTGACACTGATGCAGAAGA	0.468000														21			11		0	0	0.008291	0	0
UBA7	7318	broad.mit.edu	37	3	49851075	49851075	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49851075A>C	uc003cxr.3	-	1	233	c.62T>G	c.(61-63)gTg>gGg	p.V21G		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	21					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGAGCCCAGCACATACCTGTG	0.602000														29			8		0	0	0.004482	0	0
VPS33A	65082	broad.mit.edu	37	12	122750878	122750878	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:122750878G>A	uc001ucd.3	-	0	191	c.78C>T	c.(76-78)ttC>ttT	p.F26F	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	26					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		ACTTGTCCAGGAACTCGCGCA	0.672000														30			12		0	0	0.004007	0	0
PDE4D	5144	broad.mit.edu	37	5	58511729	58511729	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:58511729G>A	uc003jsa.2	-	1	693	c.521C>T	c.(520-522)tCc>tTc	p.S174F	PDE4D_uc003jrx.2_Missense_Mutation_p.S38F|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.S110F|PDE4D_uc003jsb.3_Missense_Mutation_p.S113F|PDE4D_uc003jsc.3_Missense_Mutation_p.S110F|PDE4D_uc003jrv.2_Missense_Mutation_p.S44F|PDE4D_uc003jrw.2_Missense_Mutation_p.S52F|PDE4D_uc010iwi.1_Missense_Mutation_p.S6F	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	174					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATTAGCCCGGATCCTGGGCT	0.498000														30			8		0	0	0.003080	0	0
FAM83B	222584	broad.mit.edu	37	6	54806377	54806377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:54806377C>T	uc003pck.3	+	4	2724	c.2608C>T	c.(2608-2610)Cca>Tca	p.P870S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	870										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACACCTTCTCCAGGTCCAGT	0.433000														70			13		0	0	0.002450	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617776	77617776	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:77617776G>A	uc003yau.2	+	1	1840	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	ZFHX4_uc003yat.1_Missense_Mutation_p.E485K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E485K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTGATGACGAGGAAGTATT	0.423000										HNSCC(33;0.089)				33			9		0	0	0.004482	0	0
ATP2A3	489	broad.mit.edu	37	17	3844779	3844779	+	Missense_Mutation	SNP	C	T	T	rs112116136	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:3844779C>T	uc002fwy.2	-	12	1888	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	ATP2A3_uc002fwz.2_Missense_Mutation_p.R572K|ATP2A3_uc002fxa.2_Missense_Mutation_p.R572K|ATP2A3_uc002fxb.2_Missense_Mutation_p.R572K|ATP2A3_uc002fxc.2_Missense_Mutation_p.R572K|ATP2A3_uc002fxd.2_Missense_Mutation_p.R572K|ATP2A3_uc002fwx.2_Missense_Mutation_p.R572K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	572					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTCCTCCTTCCTTGGGGGCGC	0.647000														30			26		0	0	0.005443	0	0
ANKRD17	26057	broad.mit.edu	37	4	73956602	73956602	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:73956602G>A	uc003hgp.3	-	28	6860	c.6743C>T	c.(6742-6744)cCc>cTc	p.P2248L	ANKRD17_uc003hgo.3_Missense_Mutation_p.P2135L|ANKRD17_uc003hgq.3_Missense_Mutation_p.P1997L|ANKRD17_uc003hgr.3_Missense_Mutation_p.P2247L	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2248					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAATGGTAAGGGGGCACTGAA	0.463000														91			61		0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39800079	39800079	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:39800079G>A	uc021olw.1	+	0	3139	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2612					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)			GTTAACTAATGAAGCAGTATT	0.408000														42			26		0	0	0.003330	0	0
GPR111	222611	broad.mit.edu	37	6	47649845	47649845	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:47649845G>A	uc010jzj.1	+	5	1551	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	GPR111_uc003oyy.3_Missense_Mutation_p.G449E	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCACAAGGGATGTGTGGCA	0.433000														60			19		0	0	0.006122	0	0
MARCH11	441061	broad.mit.edu	37	5	16091132	16091132	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:16091132C>T	uc003jfo.2	-	2	965	c.752G>A	c.(751-753)gGa>gAa	p.G251E	MARCH11_uc010itw.1_Missense_Mutation_p.G7E	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	251						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						GAACAGGGATCCTAGGATTAC	0.443000														9			13		0	0	0.001368	0	0
EIF4G2	1982	broad.mit.edu	37	11	10824772	10824772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:10824772G>A	uc001mjb.3	-	9	1417	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	EIF4G2_uc009ygf.3_Missense_Mutation_p.R295C|EIF4G2_uc001mjc.3_Missense_Mutation_p.R89C|EIF4G2_uc001mjd.3_Missense_Mutation_p.R295C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R89C|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	295	MIF4G.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCAGGAAACGAATCCTTGCT	0.333000														10			13		0	0	0.001855	0	0
SPAG17	200162	broad.mit.edu	37	1	118567984	118567984	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:118567984G>A	uc001ehk.2	-	26	3854	c.3786C>T	c.(3784-3786)taC>taT	p.Y1262Y		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1262						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCCTCTGGGGGTAGCTCTGAC	0.473000														80			32		0	0	0.006230	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928215	21928215	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:21928215G>A	uc001bev.3	-	17	1887	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	RAP1GAP_uc001bew.3_Silent_p.S602S|RAP1GAP_uc001bey.3_Silent_p.S564S|RAP1GAP_uc001bex.3_Silent_p.S538S	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	538					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGCTCTGAGTGGATGAGTTCT	0.672000														28			18		0	0	0.002299	0	0
NUP210L	91181	broad.mit.edu	37	1	154018578	154018578	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:154018578C>T	uc001fdw.3	-	26	3735	c.3663G>A	c.(3661-3663)agG>agA	p.R1221R	NUP210L_uc009woq.3_Silent_p.R130R|NUP210L_uc010peh.2_Silent_p.R1221R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1221						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCAATACATCCCTTTTGCTCA	0.398000														32			26		0	0	0.008361	0	0
LRRC33	375387	broad.mit.edu	37	3	196386840	196386840	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:196386840G>A	uc003fwv.3	+	2	430	c.326G>A	c.(325-327)aGc>aAc	p.S109N		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	109						integral to membrane		p.R108C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|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;0.00326)		CACCTGCGCAGCCTGGTCCTG	0.667000														14			12		0	0	0.001368	0	0
ADAM30	11085	broad.mit.edu	37	1	120436799	120436799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:120436799C>T	uc001eij.3	-	0	2349	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	721					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GGCATTTTTTCCTGTTTGGGT	0.353000														485			204		0	0	0.003610	0	0
OR10H4	126541	broad.mit.edu	37	19	16060708	16060708	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:16060708G>A	uc010xov.2	+	0	891	c.891G>A	c.(889-891)aaG>aaA	p.K297K		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TAAGGAACAAGGAGCTGAAGA	0.433000														52			49		0	0	0.003610	0	0
MAVS	57506	broad.mit.edu	37	20	3846674	3846674	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3846674C>T	uc002wjw.4	+	6	1675	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	MAVS_uc002wjx.4_Silent_p.F360F|MAVS_uc002wjy.4_Silent_p.F199F	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	501					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						ACCGGAAGTTCCAGGAGAGGG	0.672000														43			13		0	0	0.001855	0	0
DHX16	8449	broad.mit.edu	37	6	30633412	30633412	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:30633412G>A	uc003nqz.3	-	4	977	c.765C>T	c.(763-765)ttC>ttT	p.F255F	DHX16_uc011dmo.2_Silent_p.F195F	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	255					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding	p.F255F(1)|p.E254D(1)		kidney(2)|ovary(2)	4						CCCCAAAAAGGAACTCCTCAT	0.632000														117			13		0	0	0.001855	0	0
CCDC129	223075	broad.mit.edu	37	7	31682335	31682335	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:31682335G>A	uc011kae.2	+	10	1441	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	CCDC129_uc011kad.1_Missense_Mutation_p.G461R|CCDC129_uc003tcj.1_Missense_Mutation_p.G451R|CCDC129_uc003tci.1_Missense_Mutation_p.G302R|CCDC129_uc003tck.1_Missense_Mutation_p.G359R	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	451										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGCTGAGAATGGAGGTAGAAA	0.512000														18			17		0	0	0.004007	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457412	21457412	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:21457412T>C	uc001rer.3	-	4	789	c.538A>G	c.(538-540)Att>Gtt	p.I180V	SLCO1A2_uc010siq.2_Missense_Mutation_p.I48V|SLCO1A2_uc001res.3_Missense_Mutation_p.I180V|SLCO1A2_uc010sio.2_Missense_Mutation_p.I48V|SLCO1A2_uc010sip.2_Missense_Mutation_p.I48V|SLCO1A2_uc001ret.3_Missense_Mutation_p.I178V|SLCO1A2_uc001reu.2_Missense_Mutation_p.I160V	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	180					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATATAGGAAATACCCAAAGGC	0.368000														26			15		0	0	0.002450	0	0
KLF17	128209	broad.mit.edu	37	1	44595349	44595349	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:44595349G>A	uc001clp.3	+	1	464	c.406G>A	c.(406-408)Gga>Aga	p.G136R	KLF17_uc009vxf.1_Missense_Mutation_p.G99R	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	136					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AATGCCCGTAGGAGAGCCCAA	0.542000														50			22		0	0	0.002299	0	0
MYOCD	93649	broad.mit.edu	37	17	12656388	12656388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:12656388G>A	uc002gno.2	+	9	2082	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	MYOCD_uc002gnn.2_Missense_Mutation_p.E595K|MYOCD_uc002gnp.1_Missense_Mutation_p.E499K|MYOCD_uc002gnq.2_Missense_Mutation_p.E314K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	595					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCAGCTCAGAGTGTCACCC	0.517000														39			27		0	0	0.002096	0	0
DEFB115	245929	broad.mit.edu	37	20	29845498	29845498	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:29845498G>A	uc002wvp.1	+	0	32	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	11					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			CCCCTCTCAGGAGACATTAAA	0.512000														57			20		0	0	0.001523	0	0
LMTK3	114783	broad.mit.edu	37	19	49000689	49000690	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:49000689_49000690CC>TT	uc002pjk.3	-	11	3723_3724	c.3723_3724GG>AA	c.(3721-3726)ttggac>ttAAac	p.D1242N		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTCCCAAGTCCAAGAATAGTC	0.683000														36			13		0	0	0.004672	0	0
DPY19L4	286148	broad.mit.edu	37	8	95777444	95777444	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:95777444C>T	uc003ygx.2	+	8	1028	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	302						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CATATTTTCCCTCTTTCTGGG	0.294000														628			148		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107083655	107083655	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:107083655C>T	uc021ser.1	-	129		c.5596G>A								Parts of antibodies, mostly variable regions.																		GGAGCTGCCACCAGGAGAAGG	0.517000														18			11		0	0	0.000978	0	0
MXRA5	25878	broad.mit.edu	37	X	3261814	3261814	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:3261814G>A	uc004crg.4	-	1	218	c.61C>T	c.(61-63)Ccg>Tcg	p.P21S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	21						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCACTCGCGGATGGCCCCAA	0.662000														0			4		0	0	0.000248	0	0
IPO11	51194	broad.mit.edu	37	5	61779894	61779894	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:61779894C>T	uc011cqr.2	+	10	1329	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	IPO11_uc003jtc.3_Missense_Mutation_p.P360L	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	360						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTCACATATCCTACTTTGACA	0.353000														61			19		0	0	0.001523	0	0
CNTN4	152330	broad.mit.edu	37	3	2861197	2861197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:2861197G>A	uc003bpc.3	+	6	725	c.386G>A	c.(385-387)aGa>aAa	p.R129K	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R129K|CNTN4_uc003bpd.1_Missense_Mutation_p.R129K	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	129	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACAAGAACAAGAAGCACTGTG	0.413000														44			15		0	0	0.004990	0	0
C6orf15	29113	broad.mit.edu	37	6	31079437	31079437	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31079437T>G	uc003nsk.1	-	1	699	c.699A>C	c.(697-699)ccA>ccC	p.P233P		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	233	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCTCAGGGTGTGGCATGGGCC	0.567000														87			25		0	0	0.003954	0	0
CSMD3	114788	broad.mit.edu	37	8	113364645	113364645	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:113364645C>T	uc003ynu.3	-	39	6414	c.6255_splice	c.e39+1	p.Q2085_splice	CSMD3_uc003yns.3_Splice_Site_p.Q1287_splice|CSMD3_uc003ynt.3_Splice_Site_p.Q2045_splice|CSMD3_uc011lhx.2_Splice_Site_p.Q1981_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2085	Sushi 11.					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						ATAGACTTACCTGAAGAGAAT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				94			17		0	0	0.004990	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158980415	158980415	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:158980415C>T	uc003fcq.2	+	3	415	c.234C>T	c.(232-234)tcC>tcT	p.S78S	IQCJ-SCHIP1_uc003fcr.2_Silent_p.S51S|IQCJ-SCHIP1_uc003fco.3_Silent_p.S78S|IQCJ-SCHIP1_uc003fcp.2_Silent_p.S78S|IQCJ-SCHIP1_uc010hvy.2_Silent_p.S51S	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	0						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CCTCTGTCTCCTCAGAGAAGC	0.527000														58			28		0	0	0.008361	0	0
CARD11	84433	broad.mit.edu	37	7	2987262	2987262	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2987262T>A	uc003smv.3	-	2	501	c.167A>T	c.(166-168)gAt>gTt	p.D56V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	56	CARD.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCATCTTCATCCTGCTCATC	0.547000			Mis		DLBCL									208			28		0	0	0.002096	0	0
ANPEP	290	broad.mit.edu	37	15	90328675	90328675	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:90328675G>A	uc002bop.4	-	20	3101	c.2809C>T	c.(2809-2811)Ctg>Ttg	p.L937L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	937	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCTTGCTCCAGGGCCCGGGTG	0.542000														61			35		0	0	0.006999	0	0
TSPAN8	7103	broad.mit.edu	37	12	71519134	71519134	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:71519134A>C	uc009zrt.1	-	7	856	c.694T>G	c.(694-696)Tgc>Ggc	p.C232G	TSPAN8_uc001swk.1_Missense_Mutation_p.C232G|TSPAN8_uc001swj.1_Missense_Mutation_p.C232G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	232					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CCGATCTGGCAATACAGGACC	0.353000														238			98		0	0	0.003610	0	0
UBD	10537	broad.mit.edu	37	6	29523759	29523759	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29523759C>T	uc003nmo.3	-	1	620	c.396G>A	c.(394-396)gtG>gtA	p.V132V	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	132	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CATTGCAAGTCACAATCTGGG	0.488000														114			30		0	0	0.008361	0	0
DNAH1	25981	broad.mit.edu	37	3	52384571	52384572	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:52384571_52384572CC>TT	uc011bef.2	+	15	2955_2956	c.2694_2695CC>TT	c.(2692-2697)ttcctc>ttTTtc	p.L899F	DNAH1_uc003ddt.1_Missense_Mutation_p.L899F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	899	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATGAATTCCTCTACAACCT	0.559000														15			10		0	0	0.004672	0	0
GLI1	2735	broad.mit.edu	37	12	57861832	57861832	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:57861832C>T	uc001snx.3	+	9	1227	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L	GLI1_uc021qzi.1_Missense_Mutation_p.S337L|GLI1_uc009zpq.3_Missense_Mutation_p.S250L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	378					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GATCCTAGCTCGCTGCGAAAA	0.552000														34			8		0	0	0.006214	0	0
R3HDM2	22864	broad.mit.edu	37	12	57677620	57677620	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:57677620C>T	uc009zpm.1	-	10	1151	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.R33R|R3HDM2_uc001snr.2_Silent_p.R99R|R3HDM2_uc001sns.2_Silent_p.R372R|R3HDM2_uc001snt.2_Silent_p.R386R	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	372						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCTGGAGATCCTTCCCGCAC	0.488000														129			65		0	0	0.003610	0	0
ITGAL	3683	broad.mit.edu	37	16	30516772	30516772	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:30516772C>T	uc002dyi.4	+	19	2531	c.2355C>T	c.(2353-2355)ttC>ttT	p.F785F	ITGAL_uc002dyj.4_Silent_p.F701F|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	785					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAGTGTCCTTCTCTCCTGCAA	0.507000														46			21		0	0	0.001523	0	0
UBR2	23304	broad.mit.edu	37	6	42582840	42582840	+	Silent	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:42582840T>C	uc011dur.2	+	8	1315	c.1017T>C	c.(1015-1017)ggT>ggC	p.G339G	UBR2_uc011dus.2_5'UTR|UBR2_uc010jxv.1_5'Flank|UBR2_uc003osh.3_5'Flank|UBR2_uc003osf.3_Silent_p.G339G	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	339					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.V338F(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTCAAGTTGGTTTACAAGAAG	0.353000														139			39		0	0	0.003214	0	0
OR5M11	219487	broad.mit.edu	37	11	56310479	56310479	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:56310479G>A	uc010rjl.2	-	0	255	c.255C>T	c.(253-255)atC>atT	p.I85I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCAGATACGATATTAGTCG	0.448000														359			28		0	0	0.005443	0	0
SCN10A	6336	broad.mit.edu	37	3	38765044	38765044	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:38765044C>T	uc003ciq.3	-	18	3229	c.3229_splice	c.e18-1	p.G1077_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1077					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCGTCCACTCCCTGCAGGGGA	0.602000														2			4		0	0	0.000602	0	0
SMU1	55234	broad.mit.edu	37	9	33048158	33048158	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:33048158G>A	uc003zsf.1	-	10	1497	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	SMU1_uc011lnu.1_Silent_p.D302D	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	463						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AGAGCACAAAGTCCTCCCCTA	0.438000														24			13		0	0	0.001368	0	0
CDHR4	389118	broad.mit.edu	37	3	49836508	49836508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49836508G>A	uc010hkz.3	-	2	331	c.322C>T	c.(322-324)Cat>Tat	p.H108Y	CDHR4_uc003cxp.2_Missense_Mutation_p.H108Y|CDHR4_uc011bcw.2_Missense_Mutation_p.H108Y	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	108					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						TCCATCACATGGTTGCCACAT	0.577000														5			3		0	0	0.004672	0	0
RAC1	5879	broad.mit.edu	37	7	6439791	6439791	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:6439791C>T	uc003spx.3	+	3	501	c.260C>T	c.(259-261)cCt>cTt	p.P87L	RAC1_uc003spw.3_Missense_Mutation_p.P106L|RAC1_uc021zzg.1_Missense_Mutation_p.P43L	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	87					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CTTGTGAGTCCTGCATCATTT	0.343000														462			27		0	0	0.008361	0	0
DENND1A	57706	broad.mit.edu	37	9	126144641	126144642	+	Missense_Mutation	DNP	GG	AA	AA	rs149511328		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:126144641_126144642GG>AA	uc011lzm.1	-	20	2346_2347	c.2132_2133CC>TT	c.(2131-2133)ccc>cTT	p.P711L	DENND1A_uc011lzl.1_Missense_Mutation_p.P518L|DENND1A_uc004bny.1_Missense_Mutation_p.P482L|DENND1A_uc004bnz.1_Missense_Mutation_p.P700L|DENND1A_uc010mwh.1_Missense_Mutation_p.P121L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	700	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTTGGGGCCGGGGGATGGTGAT	0.693000														6			11		0	0	0.004672	0	0
NPNT	255743	broad.mit.edu	37	4	106863686	106863686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:106863686C>T	uc011cfd.2	+	8	1289	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	NPNT_uc011cfc.2_Missense_Mutation_p.P346L|NPNT_uc011cfe.2_Missense_Mutation_p.P359L|NPNT_uc003hya.3_Missense_Mutation_p.P329L|NPNT_uc011cff.2_Missense_Mutation_p.P329L	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	329	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CCTACTCCACCACCACCACCA	0.517000														19			14		0	0	0.003163	0	0
ATHL1	80162	broad.mit.edu	37	11	294569	294569	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:294569C>T	uc010qvu.2	+	13	2149	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S	ATHL1_uc001lor.4_Silent_p.S430S|ATHL1_uc001lou.4_Silent_p.S253S|ATHL1_uc001lov.4_Silent_p.S139S	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	678					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACAAGGTCTCCTTTCCCCGCT	0.627000														29			37		0	0	0.006230	0	0
SVEP1	79987	broad.mit.edu	37	9	113173765	113173765	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:113173765G>A	uc010mtz.3	-	36	6563	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_uc010mty.3_Missense_Mutation_p.P2S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2076	Sushi 11.				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						ATACAACGGGGCATGTCTTGA	0.483000														2			23		0	0	0.001882	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687791	49687791	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:49687791C>T	uc001jgu.3	-	3	636	c.339G>A	c.(337-339)cgG>cgA	p.R113R	ARHGAP22_uc001jgs.3_Silent_p.R23R|ARHGAP22_uc001jgt.3_Silent_p.R113R|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Silent_p.R119R|ARHGAP22_uc001jgv.3_5'UTR|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	113	PH.				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						GCACCTTCTCCCGCTCCCCGG	0.677000														4			4		0	0	0.000248	0	0
DCAF11	80344	broad.mit.edu	37	14	24590046	24590046	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:24590046G>A	uc001wlv.3	+	12	1373	c.1093_splice	c.e12-1	p.G365_splice	DCAF11_uc001wlw.3_Splice_Site_p.G365_splice|DCAF11_uc001wlz.3_Splice_Site_p.G265_splice|DCAF11_uc001wly.3_Splice_Site_p.G321_splice|DCAF11_uc010tny.2_Splice_Site_p.G232_splice|DCAF11_uc001wmc.3_Splice_Site_p.G265_splice|DCAF11_uc001wmb.4_Splice_Site_p.G339_splice|DCAF11_uc001wma.4_Splice_Site_p.G365_splice	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	365						CUL4 RING ubiquitin ligase complex	protein binding										TGGATTCATAGGGTGATGCCC	0.517000														71			51		0	0	0.003610	0	0
KRT83	3889	broad.mit.edu	37	12	52715036	52715036	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52715036G>A	uc001saf.2	-	0	147	c.84C>T	c.(82-84)agC>agT	p.S28S		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	28	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCAGCAGCGGCTTGGCCGGG	0.682000														77			23		0	0	0.002780	0	0
EIF3B	8662	broad.mit.edu	37	7	2412389	2412389	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2412389C>T	uc003slx.3	+	11	1852	c.1769C>T	c.(1768-1770)tCt>tTt	p.S590F	EIF3B_uc003sly.3_Missense_Mutation_p.S590F|EIF3B_uc003sma.3_Missense_Mutation_p.S318F	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	590					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATATCTGTGTCTTTCTACCAC	0.468000														130			7		0	0	0.001984	0	0
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:144941802G>A	uc003zaa.1	-	0	5633	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1874						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607000														101			21		0	0	0.001523	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701519	56701519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:56701519G>A	uc010ygh.2	-	3	1165	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCGCTTCCGACAGAGATCA	0.522000														42			23		0	0	0.001882	0	0
MIER2	54531	broad.mit.edu	37	19	312226	312226	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:312226A>T	uc002lok.1	-	8	863	c.854T>A	c.(853-855)cTg>cAg	p.L285Q		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	285	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CAGCCTTCGCAGGGCCTCCTC	0.632000														14			4		0	0	0.001168	0	0
CNGB3	54714	broad.mit.edu	37	8	87588331	87588331	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:87588331C>T	uc003ydx.3	-	17	2179	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	CNGB3_uc010maj.3_Missense_Mutation_p.E568K	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	711					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						tttccttcttcctctcctcct	0.284000														32			10		0	0	0.006214	0	0
PPP1R32	220004	broad.mit.edu	37	11	61250166	61250166	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:61250166G>A	uc001nru.2	+	3	399	c.267G>A	c.(265-267)caG>caA	p.Q89Q	PPP1R32_uc009ynq.2_Silent_p.Q89Q	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	89																	TGGCCAGCCAGAGCTACCGCC	0.652000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			16		0	0	0.006122	0	0
DONSON	29980	broad.mit.edu	37	21	34958419	34958419	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:34958419C>G	uc002ysk.3	-	2	791	c.471G>C	c.(469-471)tgG>tgC	p.W157C	DONSON_uc002ysn.1_Missense_Mutation_p.W40C|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.3_5'UTR|DONSON_uc002ysm.3_Missense_Mutation_p.W157C	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	157					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TTTTAATACTCCAGTCCACAG	0.418000											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		19			7		0	0	0.001984	0	0
CD101	9398	broad.mit.edu	37	1	117568166	117568166	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:117568166G>A	uc010oxb.1	+	7	2522	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	CD101_uc009whd.3_Missense_Mutation_p.E822K|CD101_uc010oxc.1_Missense_Mutation_p.E822K|CD101_uc010oxd.1_Missense_Mutation_p.E760K	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	822	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTACTGGACCGAAAATGTGAC	0.463000														54			28		0	0	0.004289	0	0
GCNT3	9245	broad.mit.edu	37	15	59911093	59911093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:59911093C>T	uc002age.3	+	2	1105	c.656C>T	c.(655-657)cCg>cTg	p.P219L	GCNT3_uc002agd.3_Missense_Mutation_p.P219L|GCNT3_uc021smz.1_Missense_Mutation_p.P219L	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	219					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.V218L(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCTCAGTGCCGTGGAAATAC	0.502000														55			42		0	0	0.002222	0	0
PDGFRA	5156	broad.mit.edu	37	4	55138611	55138611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:55138611G>A	uc003han.4	+	8	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	430	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCAACTGGGGGACAGACGGT	0.473000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				150			24		0	0	0.002780	0	0
LONP1	9361	broad.mit.edu	37	19	5719871	5719871	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:5719871C>T	uc002mcx.3	-	0	306	c.273G>A	c.(271-273)gaG>gaA	p.E91E	CATSPERD_uc010duj.1_5'Flank|CATSPERD_uc002mda.3_5'Flank|LONP1_uc002mcy.3_Intron|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Silent_p.E91E|LONP1_uc002mcz.3_Intron	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	91					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						cggcTCCTTCCTCCGCGCCGC	0.746000														3			3		0	0	0.004672	0	0
COBL	23242	broad.mit.edu	37	7	51092834	51092834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:51092834G>A	uc003tps.3	-	12	3955	c.3770C>T	c.(3769-3771)tCc>tTc	p.S1257F	COBL_uc003tpr.4_Missense_Mutation_p.S1247F|COBL_uc011kcl.2_Missense_Mutation_p.S1200F|COBL_uc003tpp.4_Missense_Mutation_p.S1033F|COBL_uc003tpq.4_Missense_Mutation_p.S1141F|COBL_uc003tpo.4_Missense_Mutation_p.S789F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1247	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCTGTGCCGGAGCGGATGGC	0.627000														78			30		0	0	0.001786	0	0
OR52B2	255725	broad.mit.edu	37	11	6191512	6191512	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:6191512G>A	uc010qzy.2	-	0	45	c.45C>T	c.(43-45)gtC>gtT	p.V15V		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCAGGAAGGACAAAAACTG	0.448000														23			14		0	0	0.002450	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450849	85450849	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:85450849C>T	uc001tac.3	+	7	2389	c.2278C>T	c.(2278-2280)Caa>Taa	p.Q760*	LRRIQ1_uc021rbo.1_Nonsense_Mutation_p.Q638*|LRRIQ1_uc001taa.1_Nonsense_Mutation_p.Q735*	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	760										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CAAGCAAAATCAACAAAAGAA	0.393000														200			78		0	0	0.003610	0	0
TJAP1	93643	broad.mit.edu	37	6	43473457	43473457	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43473457C>T	uc003ovd.2	+	10	1914	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	TJAP1_uc003ovf.2_Missense_Mutation_p.S503F|TJAP1_uc003ove.2_Missense_Mutation_p.S503F|TJAP1_uc003ovc.2_Missense_Mutation_p.S503F|TJAP1_uc010jyp.2_Missense_Mutation_p.S472F|TJAP1_uc011dvh.1_Missense_Mutation_p.S503F|TJAP1_uc003ovg.2_Missense_Mutation_p.S379F|TJAP1_uc011dvi.1_Missense_Mutation_p.S513F|TJAP1_uc011dvj.2_Missense_Mutation_p.S313F|TJAP1_uc003ovi.2_Missense_Mutation_p.S379F	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	513						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCAGGCACTTCCCACACCGAG	0.662000														34			5		0	0	0.001168	0	0
CA2	760	broad.mit.edu	37	8	86386616	86386616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:86386616G>A	uc003ydk.2	+	3	595	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_000067	NP_000058	P00918	CAH2_HUMAN	Homo sapiens carbonic anhydrase II (CA2), mRNA.	139					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	GCAACCTGATGGACTGGCCGT	0.398000														288			54		0	0	0.003610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632513	111632513	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:111632513T>G	uc010hqa.3	+	2	2094	c.1683T>G	c.(1681-1683)gcT>gcG	p.A561A	PHLDB2_uc003dyc.3_Silent_p.A588A|PHLDB2_uc003dyd.3_Silent_p.A561A|PHLDB2_uc003dyg.3_Silent_p.A561A|PHLDB2_uc003dyh.3_Silent_p.A561A|PHLDB2_uc003dyi.3_Silent_p.A147A|PHLDB2_uc003dyf.4_Silent_p.A561A	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	561						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TTCCGAAAGCTTCCAGCGAGT	0.507000														167			57		0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4869588	4869588	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:4869588G>A	uc010qyo.2	-	0	851	c.851C>T	c.(850-852)tCc>tTc	p.S284F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGACATAGGATAGAAGAGT	0.448000														40			22		0	0	0.003954	0	0
AK127292	0	broad.mit.edu	37	13	24519992	24519992	+	RNA	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:24519992G>A	uc001upb.1	-	0		c.3463C>T								Homo sapiens cDNA FLJ45359 fis, clone BRHIP3013588.																		GCTGTTCCGCGTCCCGGATTC	0.677000														3			3		0	0	0.004672	0	0
OR2J2	26707	broad.mit.edu	37	6	29141898	29141898	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29141898C>T	uc011dlm.2	+	0	588	c.486C>T	c.(484-486)tcC>tcT	p.S162S		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCATTCCTCCTTTACTTTCT	0.468000														430			61		0	0	0.003610	0	0
PTK2	5747	broad.mit.edu	37	8	141874443	141874443	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:141874443C>T	uc003yvu.3	-	4	728	c.418G>A	c.(418-420)Gat>Aat	p.D140N	PTK2_uc003yvr.3_Missense_Mutation_p.D39N|PTK2_uc003yvs.3_Missense_Mutation_p.D140N|PTK2_uc011ljr.2_Missense_Mutation_p.D140N|PTK2_uc003yvt.3_Missense_Mutation_p.D162N|PTK2_uc003yvv.3_Missense_Mutation_p.D27N	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	140	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GTTGGCTTATCTTCAGTAAAC	0.264000														132			38		0	0	0.002222	0	0
IFT20	90410	broad.mit.edu	37	17	26659002	26659002	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:26659002C>T	uc002hav.1	-	2	379	c.88G>A	c.(88-90)Gac>Aac	p.D30N	IFT20_uc002hau.1_Missense_Mutation_p.D4N|IFT20_uc002haw.1_Missense_Mutation_p.D4N|IFT20_uc010wae.1_Missense_Mutation_p.D30N|TNFAIP1_uc002hax.2_Intron			Q8IY31	IFT20_HUMAN	Homo sapiens intraflagellar transport 20 homolog (Chlamydomonas) (IFT20), mRNA.	4					cell projection organization	Golgi apparatus|centriole|cilium|microtubule basal body	protein binding			lung(2)	2	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CCCAGGATGTCCTTGGCCATG	0.552000														27			44		0	0	0.003610	0	0
IL20	50604	broad.mit.edu	37	1	207039919	207039919	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:207039919C>T	uc001her.3	+	2	360	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	IL20_uc009xby.3_Missense_Mutation_p.L106F	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	106					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		CCATTATACTCTCCGGAAGAT	0.502000														92			246		0	0	0.003610	0	0
KCNK17	89822	broad.mit.edu	37	6	39267263	39267263	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:39267263C>T	uc003ooo.3	-	4	1080	c.939G>A	c.(937-939)atG>atA	p.M313I	KCNK17_uc003oop.3_3'UTR	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	313						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GTATGATTCCCATGGGTCCCT	0.552000														64			8		0	0	0.006214	0	0
GALNT12	79695	broad.mit.edu	37	9	101589065	101589065	+	Silent	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:101589065T>A	uc004ayz.3	+	2	573	c.573T>A	c.(571-573)ctT>ctA	p.L191L		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	191	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCAATGAGCTTTCGGGACTGC	0.647000														2			16		0	0	0.004990	0	0
OR1N2	138882	broad.mit.edu	37	9	125316009	125316009	+	Silent	SNP	C	G	G	rs140908671		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:125316009C>G	uc011lyx.2	+	0	561	c.561C>G	c.(559-561)gcC>gcG	p.A187A		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	187					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						CTTTCTGTGCCCAGAAAGCCA	0.537000														8			39		0	0	0.004878	0	0
BCMO1	53630	broad.mit.edu	37	16	81293407	81293407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:81293407C>T	uc002fgn.1	+	2	538	c.320C>T	c.(319-321)tCc>tTc	p.S107F	BCMO1_uc002fgm.1_Missense_Mutation_p.S107F|BCMO1_uc010vnp.1_Intron	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	107					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AACATATTTTCCAAGTAACTG	0.408000														64			25		0	0	0.004656	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420984	105420984	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:105420984C>T	uc010axc.1	-	6	924	c.804G>A	c.(802-804)aaG>aaA	p.K268K	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.K168K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	268						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCGCTTGCTCTTTATGGATT	0.582000														12			9		0	0	0.000978	0	0
ZNF555	148254	broad.mit.edu	37	19	2852712	2852712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:2852712C>T	uc002lwo.3	+	3	787	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	ZNF555_uc002lwn.4_Missense_Mutation_p.R216W	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CTCCCTCAATCGGCATGTAAG	0.428000														29			22		0	0	0.002299	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963240	+	Splice_Site	DNP	CT	TA	TA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:153963239_153963240CT>TA	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGGT	0.540000														25			64		0	0	0.004672	0	0
DCDC5	100506627	broad.mit.edu	37	11	30925117	30925117	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:30925117A>G	uc009yjk.1	-	19	2835	c.2766T>C	c.(2764-2766)gaT>gaC	p.D922D	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.D581D|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	553					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GAAAGGATTCATCTAGAGCCC	0.433000														9			6		0	0	0.001168	0	0
GPR31	2853	broad.mit.edu	37	6	167570376	167570376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:167570376C>T	uc011egq.2	-	0	944	c.944G>A	c.(943-945)aGa>aAa	p.R315K		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	315						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ATAGGAGTCTCTGGGGTTGAA	0.537000														19			12		0	0	0.002450	0	0
ABRA	137735	broad.mit.edu	37	8	107781950	107781950	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:107781950G>A	uc003ymm.4	-	0	523	c.469C>T	c.(469-471)Cca>Tca	p.P157S		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	157					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTCCGCGTTGGGGAGCCGTGG	0.582000														164			24		0	0	0.004656	0	0
OGG1	4968	broad.mit.edu	37	3	9793459	9793459	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:9793459C>G	uc003bsi.3	+	2	734	c.391C>G	c.(391-393)Cga>Gga	p.R131G	OGG1_uc003bsj.3_Missense_Mutation_p.R131G|OGG1_uc003bsh.3_Missense_Mutation_p.R131G|OGG1_uc003bsl.3_Missense_Mutation_p.R131G|OGG1_uc003bsk.3_Missense_Mutation_p.R131G|OGG1_uc003bsm.3_Missense_Mutation_p.R131G|OGG1_uc003bsn.3_Missense_Mutation_p.R131G|OGG1_uc003bso.3_Missense_Mutation_p.R131G|OGG1_uc003bsr.2_5'UTR|OGG1_uc010hcm.2_5'UTR|OGG1_uc003bsq.2_5'UTR|OGG1_uc003bsp.2_5'UTR	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	131			R -> Q (found in a lung cancer sample; loss of activity).		depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					TCCAGGTGTGCGACTGCTGCG	0.557000								Base excision repair (BER), DNA glycosylases						110			41		0	0	0.002852	0	0
RELN	5649	broad.mit.edu	37	7	103216024	103216024	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:103216024C>T	uc022ajr.1	-	28	4434	c.4274G>A	c.(4273-4275)gGa>gAa	p.G1425E	RELN_uc022ajq.1_Missense_Mutation_p.G1425E|RELN_uc010liz.3_Missense_Mutation_p.G1425E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1425	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAACACACTCCTGAAATGCA	0.438000														30			18		0	0	0.001523	0	0
TRAP1	10131	broad.mit.edu	37	16	3722817	3722817	+	Missense_Mutation	SNP	G	A	A	rs111548439		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:3722817G>A	uc002cvt.4	-	9	1138	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	TRAP1_uc002cvs.3_Missense_Mutation_p.P141L|TRAP1_uc010uxf.2_Missense_Mutation_p.P297L	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	350					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				AAACATGGACGGTTTCTGGGG	0.627000														9			3		0	0	0.004672	0	0
ACOT4	122970	broad.mit.edu	37	14	74062021	74062021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:74062021C>T	uc001xoo.3	+	2	1183	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	310					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		AGCATGATTCCAATAGAGAAG	0.493000														29			17		0	0	0.004007	0	0
CBLN2	147381	broad.mit.edu	37	18	70205894	70205894	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:70205894G>A	uc002lku.2	-	2	706	c.471C>T	c.(469-471)acC>acT	p.T157T	CBLN2_uc002lkv.2_Silent_p.T157T	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	157	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CCACCTGGATGGTTTGTCTGT	0.453000														36			16		0	0	0.007413	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128902303	128902303	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:128902303G>A	uc004eut.1	+	20	2111	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	623					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GACCATCCGGGAGAAGGTGGG	0.602000														2			19		0	0	0.002299	0	0
COL11A2	1302	broad.mit.edu	37	6	33154559	33154559	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:33154559G>A	uc003ocx.1	-	4	871	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	COL11A2_uc003ocy.1_Nonsense_Mutation_p.Q215*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.Q215*|COL11A2_uc003oda.3_Nonsense_Mutation_p.Q215*	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	215	Nonhelical 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						TAGGCTGCCTGGACCCCTGGG	0.567000														288			23		0	0	0.004656	0	0
MDN1	23195	broad.mit.edu	37	6	90397860	90397860	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:90397860G>A	uc003pnn.1	-	66	11408	c.11292C>T	c.(11290-11292)ttC>ttT	p.F3764F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3764					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGAAAGTGGGAAACTACGAA	0.443000														99			89		0	0	0.003610	0	0
GRWD1	83743	broad.mit.edu	37	19	48953957	48953957	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:48953957C>T	uc002pjd.2	+	4	950	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	239						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		AAAAGAACATCCACCTCTGGA	0.647000														16			13		0	0	0.002450	0	0
TGS1	96764	broad.mit.edu	37	8	56699515	56699515	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:56699515G>A	uc003xsj.4	+	3	1445	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	TGS1_uc010lyh.3_Missense_Mutation_p.S257N	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	353					RNA capping|cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GAAGTTAGTAGCAAAAGAGAG	0.438000														83			22		0	0	0.001882	0	0
TNF	7124	broad.mit.edu	37	6	31545302	31545302	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31545302C>T	uc003nui.3	+	3	859	c.690C>T	c.(688-690)atC>atT	p.I230I	TNF_uc003nuj.3_Missense_Mutation_p.S82L	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	230					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	ACTTTGGGATCATTGCCCTGT	0.572000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					135			15		0	0	0.004990	0	0
EPB49	2039	broad.mit.edu	37	8	21938632	21938632	+	Silent	SNP	C	T	T	rs146626785		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:21938632C>T	uc022asw.1	+	13	1070	c.1032C>T	c.(1030-1032)ccC>ccT	p.P344P	EPB49_uc022asq.1_Silent_p.L320L|EPB49_uc022asr.1_Silent_p.L342L|EPB49_uc022ass.1_Silent_p.L295L|EPB49_uc022ast.1_Silent_p.L342L|EPB49_uc022asu.1_Silent_p.L342L|EPB49_uc022asv.1_Silent_p.L320L|EPB49_uc022asx.1_Silent_p.P322P|EPB49_uc022asy.1_Silent_p.P297P	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	344	HP.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AGATCTATCCCTATGAAATGC	0.587000														39			14		0	0	0.001855	0	0
TNNI2	7136	broad.mit.edu	37	11	1862718	1862718	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:1862718G>A	uc021qbv.1	+	6	508	c.486G>A	c.(484-486)agG>agA	p.R162R	TNNI2_uc021qbt.1_Silent_p.R141R|TNNI2_uc021qbu.1_Silent_p.R141R|TNNI2_uc010qxe.1_Silent_p.R162R	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	162					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGACTGGAGGAAGAACATCG	0.642000														25			15		0	0	0.006122	0	0
SLIT2	9353	broad.mit.edu	37	4	20555447	20555447	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:20555447C>T	uc003gpr.1	+	25	2785	c.2581C>T	c.(2581-2583)Ctt>Ttt	p.L861F	SLIT2_uc003gps.1_Missense_Mutation_p.L853F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	861	LRRCT 4.				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						AGCCAACCCTCTTTACTGTGA	0.463000														91			11		0	0	0.001368	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516324	138516324	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:138516324A>G	uc010nbd.1	-	4	704	c.450T>C	c.(448-450)caT>caC	p.H150H		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	150					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGCTCTTCACATGCACCAGGG	0.562000														18			4		0	0	0.000248	0	0
CAGE1	285782	broad.mit.edu	37	6	7374037	7374037	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7374037C>T	uc003mxl.2	-	4	1546	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E203K|CAGE1_uc003mxj.3_Missense_Mutation_p.E94K|CAGE1_uc003mxk.2_Missense_Mutation_p.E339K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	339								p.E339*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					ATCTGTAGTTCTTTAACCCTC	0.328000														82			18		0	0	0.007413	0	0
XIRP1	165904	broad.mit.edu	37	3	39227497	39227497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:39227497G>A	uc003cjk.2	-	1	3669	c.3440C>T	c.(3439-3441)cCc>cTc	p.P1147L	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P1147L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1147							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTCCTCACGGGATGAGCGGT	0.622000														47			23		0	0	0.002780	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651385	121651385	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:121651385C>T	uc003vjy.3	+	11	2680	c.2285C>T	c.(2284-2286)tCc>tTc	p.S762F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	762					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.P761T(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAACCTTCCTACAGTAGT	0.493000														57			55		0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62675692	62675692	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:62675692G>A	uc021ooc.1	+	4	1681	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	L1TD1_uc001dae.4_Missense_Mutation_p.E416K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	416	Glu-rich.							p.E415E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gctggaggaggaagaagaaga	0.562000														9			13		0	0	0.001368	0	0
DNAH11	8701	broad.mit.edu	37	7	21657364	21657364	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:21657364G>A	uc003svc.3	+	22	4269	c.4238G>A	c.(4237-4239)aGg>aAg	p.R1413K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1413	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						CTCAGGGACAGGCATTGGCAC	0.512000									Kartagener syndrome					31			15		0	0	0.003163	0	0
SLC7A9	11136	broad.mit.edu	37	19	33359359	33359359	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:33359359T>G	uc002ntv.4	-	1	199	c.82A>C	c.(82-84)Aag>Cag	p.K28Q	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.K28Q|SLC7A9_uc021usa.1_Missense_Mutation_p.K28Q|SLC7A9_uc002ntw.4_5'UTR	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	28					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTTACCTCCTTTTGGAGACTG	0.592000														44			6		0	0	0.003080	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397614	22397614	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:22397614G>A	uc001mqk.3	+	9	1674	c.1261G>A	c.(1261-1263)Gga>Aga	p.G421R		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	421					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G421*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTTGCAGTGGGATTCAGTGG	0.398000														87			59		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9059045	9059045	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9059045G>A	uc002mkp.3	-	2	28605	c.28401C>T	c.(28399-28401)ttC>ttT	p.F9467F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9469	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						TGATAGAGGTGAAAAGAGAAG	0.478000														51			40		0	0	0.005524	0	0
ALDH7A1	501	broad.mit.edu	37	5	125919695	125919695	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:125919695G>A	uc003ktx.3	-	3	514	c.322C>T	c.(322-324)Cca>Tca	p.P108S	ALDH7A1_uc011cxa.2_Missense_Mutation_p.P135S	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	108					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCTCGTTTTGGAGCAGGAATC	0.348000														99			29		0	0	0.002096	0	0
ZNF154	7710	broad.mit.edu	37	19	58213273	58213274	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:58213273_58213274CC>TT	uc010euf.3	-	2	1283_1284	c.1043_1044GG>AA	c.(1042-1044)cgg>cAA	p.R348Q	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	348						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGAACTCCCCGATGTTGAAG	0.495000														64			23		0	0	0.004672	0	0
TNXB	7148	broad.mit.edu	37	6	32053871	32053871	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32053871C>T	uc003nzl.2	-	6	3006	c.2804G>A	c.(2803-2805)gGg>gAg	p.G935E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1028					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCGGTAGTCCCCAAGAGGCC	0.627000														393			34		0	0	0.006230	0	0
RBM47	54502	broad.mit.edu	37	4	40434799	40434799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:40434799G>A	uc003gvc.2	-	5	2121	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	RBM47_uc003gvd.2_Missense_Mutation_p.H402Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.H433Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	471						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						TCCACTGTGTGGATTTTGCCA	0.592000														76			15		0	0	0.003163	0	0
CREBBP	1387	broad.mit.edu	37	16	3777962	3777962	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:3777962G>A	uc002cvv.3	-	30	7290	c.7086C>T	c.(7084-7086)agC>agT	p.S2362S	CREBBP_uc002cvw.3_Silent_p.S2324S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2362					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGTGACGGGCTGGAATGTG	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							42			26		0	0	0.002445	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16936239	16936239	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrY:16936239C>T	uc011nas.1	+	4	1036	c.857C>T	c.(856-858)tCc>tTc	p.S286F	NLGN4Y_uc004fte.2_Missense_Mutation_p.S98F|NLGN4Y_uc004ftg.2_Missense_Mutation_p.S266F|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.S266F	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	266					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						TTGACCCTGTCCCACTACTCA	0.542000														17			19		0	0	0.001523	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679096	37679096	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:37679096G>A	uc001uwm.1	-	0	706	c.298C>T	c.(298-300)Ctc>Ttc	p.L100F		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	100	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAATTAAAGAGGTCTTCGAGG	0.443000														35			20		0	0	0.001882	0	0
NOTCH4	4855	broad.mit.edu	37	6	32185012	32185012	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32185012G>A	uc003obb.3	-	9	1795	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.I552I	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	552	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCACTCATCGATATCCTCCT	0.622000														418			78		0	0	0.003610	0	0
SHANK2	22941	broad.mit.edu	37	11	70333519	70333519	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:70333519G>A	uc001oqc.3	-	20	2793	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F	SHANK2_uc010rqn.2_Missense_Mutation_p.S370F|SHANK2_uc001opz.3_Missense_Mutation_p.S365F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	581					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGAGTCCAAGGAGTAGCGGTC	0.592000														219			17		0	0	0.004990	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:74015056C>T	uc010wss.1	-	10	1451	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000														11			21		0	0	0.001882	0	0
SLC9C1	285335	broad.mit.edu	37	3	111918168	111918168	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:111918168C>T	uc003dyu.3	-	20	2745	c.2523_splice	c.e20+1	p.K841_splice	SLC9C1_uc011bhu.2_Splice_Site_p.K104_splice|SLC9C1_uc010hqc.3_Splice_Site_p.K793_splice	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	841					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTGCCTTACCTTATTAATTC	0.308000														68			12		0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152324872	152324872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:152324872C>T	uc001ezw.4	-	2	5463	c.5390G>A	c.(5389-5391)gGa>gAa	p.G1797E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1797							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTTCTTCCAGTGGTCCT	0.547000														181			52		0	0	0.003610	0	0
LILRP2	79166	broad.mit.edu	37	19	55221329	55221329	+	RNA	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55221329T>A	uc002qgs.1	+	0		c.1729T>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CGACTCTTCTTTCCCTCCAGG	0.627000														12			8		0	0	0.006214	0	0
KCNK2	3776	broad.mit.edu	37	1	215259779	215259779	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:215259779A>C	uc001hkq.3	+	1	284	c.115A>C	c.(115-117)Acg>Ccg	p.T39P	KCNK2_uc001hko.3_Missense_Mutation_p.T35P|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.T24P	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	39							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTCGTTTTCCACGAAACCCAC	0.512000														15			53		0	0	0.003610	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381234	39381234	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:39381234C>T	uc010oio.1	-	3	639	c.635_splice	c.e3+1	p.G212_splice	RHBDL2_uc010oin.1_Splice_Site_p.G132_splice|RHBDL2_uc001ccu.1_Splice_Site_p.G132_splice|RHBDL2_uc001ccv.3_Missense_Mutation_p.G132E	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	132					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CATTGCTTACCCAGCATGTAC	0.423000														61			20		0	0	0.001523	0	0
ATP1A2	477	broad.mit.edu	37	1	160105224	160105224	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:160105224G>A	uc001fvc.3	+	16	2248	c.2116_splice	c.e16-1	p.G706_splice	ATP1A2_uc001fvb.2_Splice_Site_p.G706_splice|ATP1A2_uc001fvd.3_Splice_Site_p.G442_splice	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	706					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCCTCCAGGGAGCCATTGT	0.617000														58			9		0	0	0.008291	0	0
HDAC3	8841	broad.mit.edu	37	5	141009682	141009682	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:141009682G>A	uc003llf.2	-	3	358	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	HDAC3_uc003lle.1_Missense_Mutation_p.P41S|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	98	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	AAGAGCCCGGGAAACACTGGG	0.557000														63			67		0	0	0.003610	0	0
TOP2A	7153	broad.mit.edu	37	17	38546331	38546331	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:38546331G>A	uc002huq.3	-	33	4512	c.4353C>T	c.(4351-4353)gtC>gtT	p.V1451V	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	1451					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTTTTGAGAGACACCAGAAT	0.443000														16			13		0	0	0.001855	0	0
TANC2	26115	broad.mit.edu	37	17	61499273	61499273	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:61499273C>T	uc002jal.4	+	24	5953	c.5930C>T	c.(5929-5931)tCc>tTc	p.S1977F	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.S1088F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1977							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGGCAGACATCCCCTATCAAA	0.502000														68			19		0	0	0.007413	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111857668	111857668	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:111857668G>A	uc001vrs.2	+	3	598	c.348G>A	c.(346-348)caG>caA	p.Q116Q	ARHGEF7_uc001vrr.2_Silent_p.Q95Q|ARHGEF7_uc001vrt.2_Silent_p.Q66Q|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Intron|ARHGEF7_uc001vrw.4_5'UTR|ARHGEF7_uc001vrx.4_5'UTR|ARHGEF7_uc010tjo.2_Silent_p.Q13Q	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	116	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding	p.G115G(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATCAGGGGCAGAATTTTAACA	0.388000														32			23		0	0	0.004656	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378000	55378000	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55378000G>A	uc002qhl.4	+	8	1245	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	KIR3DL2_uc002qho.4_Silent_p.Q394Q|KIR3DL2_uc010esh.3_Silent_p.Q377Q			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	394					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAGACCCTCAGGAGGTGACGT	0.498000														214			105		0	0	0.003610	0	0
OR6B1	135946	broad.mit.edu	37	7	143701692	143701692	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:143701692C>T	uc003wdt.1	+	0	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TAGACTTTATCCTGGCACTGG	0.458000														45			37		0	0	0.006999	0	0
VPS8	23355	broad.mit.edu	37	3	184632795	184632796	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:184632795_184632796CC>TT	uc021xik.1	+	25	2304_2305	c.2216_2217CC>TT	c.(2215-2217)ccc>cTT	p.P739L	VPS8_uc003fpb.1_Missense_Mutation_p.P737L|VPS8_uc010hyd.1_Missense_Mutation_p.P647L|VPS8_uc010hye.1_Missense_Mutation_p.P166L	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	739							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CGTGCCTATCCCCTTGGTGACA	0.431000														82			19		0	0	0.004672	0	0
VCAN	1462	broad.mit.edu	37	5	82834173	82834173	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:82834173G>A	uc003kii.3	+	7	5707	c.5351G>A	c.(5350-5352)aGg>aAg	p.R1784K	VCAN_uc003kij.3_Missense_Mutation_p.R797K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.R448K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1784	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CAGTCTGAAAGGGAAATGACA	0.398000														91			18		0	0	0.008871	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224702	172224702	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:172224702C>T	uc003fid.3	-	4	549	c.426G>A	c.(424-426)aaG>aaA	p.K142K	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.R93K	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	142					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTTTTCATTCTTGGAGTCTG	0.443000														17			9		0	0	0.004482	0	0
GRM7	2917	broad.mit.edu	37	3	7456764	7456764	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:7456764G>A	uc003bqm.2	+	4	1362	c.1088G>A	c.(1087-1089)tGg>tAg	p.W363*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.W363*|GRM7_uc003bql.2_Nonsense_Mutation_p.W363*|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	363					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGAAATGTATGGTTTGCCGAA	0.413000														23			11		0	0	0.001368	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378726	31378726	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:31378726C>T	uc003tch.3	-	1	510	c.157G>A	c.(157-159)Gga>Aga	p.G53R	NEUROD6_uc022abi.1_Missense_Mutation_p.G53R	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	53					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						gtttcttctccAGGGGCCCTT	0.433000														55			26		0	0	0.003954	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141461203	141461204	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:141461203_141461204CT>TA	uc003yvh.2	-	1	578_579	c.563_564AG>TA	c.(562-564)aag>aTA	p.K188I	TRAPPC9_uc003yvj.2_Missense_Mutation_p.K90I|TRAPPC9_uc003yvi.1_Missense_Mutation_p.K90I	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	90					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTGGCCAGTCCTTGGCCGAGAA	0.579000														85			19		0	0	0.004672	0	0
LRP5	4041	broad.mit.edu	37	11	68115509	68115509	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:68115509G>A	uc001ont.3	+	1	361	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	96	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAACCAGACGGGGGCCGCCGT	0.637000														91			73		0	0	0.003610	0	0
PANK3	79646	broad.mit.edu	37	5	167995999	167995999	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:167995999G>A	uc003lzz.2	-	1	359	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_024594	NP_078870	Q9H999	PANK3_HUMAN	Homo sapiens pantothenate kinase 3 (PANK3), mRNA.	11					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CAAACCATGGGAAAGCTATGG	0.328000														51			10		0	0	0.006214	0	0
DHX8	1659	broad.mit.edu	37	17	41569586	41569586	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:41569586G>A	uc002idu.1	+	4	501	c.429G>A	c.(427-429)gtG>gtA	p.V143V	DHX8_uc010wif.1_Silent_p.V52V|DHX8_uc010wig.2_Silent_p.V143V	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	143						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGTTGCTGTGGATGTCCTGA	0.473000														30			32		0	0	0.002836	0	0
ABCA2	20	broad.mit.edu	37	9	139910620	139910620	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:139910620G>A	uc004ckm.1	-	21	3248	c.3198C>T	c.(3196-3198)atC>atT	p.I1066I	ABCA2_uc022bpy.1_Silent_p.I967I|ABCA2_uc022bpz.1_Silent_p.I1037I|ABCA2_uc011mem.1_Silent_p.I1036I|ABCA2_uc004ckl.1_Silent_p.I967I|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1036	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCCGGTCAGGATGGACCTGG	0.657000														24			18		0	0	0.001882	0	0
OR2A4	79541	broad.mit.edu	37	6	132022493	132022493	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:132022493G>A	uc011ecd.2	-	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ENPP3_uc003qcu.4_Intron|ENPP3_uc003qcv.3_Intron|ENPP3_uc010kfq.3_Intron	NM_030908	NP_112170	O95047	OR2A4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 4 (OR2A4), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		GGGCCAACGGGAAATCCCAGT	0.488000														28			19		0	0	0.003330	0	0
TRPS1	7227	broad.mit.edu	37	8	116426751	116426751	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:116426751T>A	uc003yny.3	-	6	3963	c.3385A>T	c.(3385-3387)Aaa>Taa	p.K1129*	TRPS1_uc011lhy.2_Nonsense_Mutation_p.K1120*|TRPS1_uc003ynz.3_Nonsense_Mutation_p.K1116*|TRPS1_uc010mcy.3_Nonsense_Mutation_p.K1116*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1116	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGCTTATATTTACTCCAGAAC	0.473000									Langer-Giedion syndrome					52			16		0	0	0.003163	0	0
NMUR1	10316	broad.mit.edu	37	2	232393698	232393698	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:232393698G>A	uc002vry.4	-	1	144	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	12					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.L11F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGGTCTCCAGGGAGGACAGAG	0.567000														10			6		0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	31978814	31978814	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31978814C>T	uc021yvf.1	-	4		c.1582_splice	c.e4-1		STK19_uc003nza.3_5'Flank|C4B_uc021yvg.1_5'Flank|STK19_uc003nzb.3_5'Flank			P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGAGGCTCCCCTGAAAACG	0.632000														214			46		0	0	0.003610	0	0
TNXB	7148	broad.mit.edu	37	6	32023726	32023726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32023726G>A	uc003nzl.2	-	23	8571	c.8369C>T	c.(8368-8370)aCc>aTc	p.T2790I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2848					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCCACGGTGACCTCGCT	0.682000														719			156		0	0	0.003610	0	0
ZNF534	147658	broad.mit.edu	37	19	52941587	52941587	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:52941587C>T	uc002pzk.3	+	3	980	c.913C>T	c.(913-915)Cat>Tat	p.H305Y	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.H292Y	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						TAGGAAAATTCATACTGGAGA	0.393000														14			11		0	0	0.000978	0	0
PEG3	5178	broad.mit.edu	37	19	57335673	57335673	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57335673G>A	uc002qnu.2	-	0	702	c.351C>T	c.(349-351)ctC>ctT	p.L117L	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_5'UTR|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_5'UTR|PEG3_uc002qnq.2_5'UTR|PEG3_uc002qnt.2_Silent_p.L117L|PEG3_uc002qnv.2_Silent_p.L117L|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Silent_p.L117L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	117	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAGAGTGACGAGCTTCTCAC	0.547000														68			36		0	0	0.005524	0	0
SLC22A14	9389	broad.mit.edu	37	3	38347571	38347571	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:38347571G>A	uc003cib.2	+	0	127	c.54G>A	c.(52-54)agG>agA	p.R18R	SLC22A14_uc010hhc.1_Silent_p.R18R|SLC22A14_uc003cia.2_Silent_p.R18R|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	18						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATGCTTCCAGGAACTTGAACC	0.522000														99			37		0	0	0.005524	0	0
PAX1	5075	broad.mit.edu	37	20	21689305	21689305	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:21689305A>G	uc002wsj.2	+	2	1080	c.1026A>G	c.(1024-1026)aaA>aaG	p.K342K	PAX1_uc010zsl.2_Silent_p.K342K|PAX1_uc010zsm.2_Silent_p.K318K	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	342					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGCTAGAGAAACCTGCCTTAG	0.582000														60			13		0	0	0.001855	0	0
MYBPC3	4607	broad.mit.edu	37	11	47356689	47356689	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:47356689C>T	uc021qis.1	-	26	2864	c.2809G>A	c.(2809-2811)Ggg>Agg	p.G937R	MYBPC3_uc021qir.1_Missense_Mutation_p.G589R	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	936	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)		AGCCGGGCCCCCGTGGGCAGG	0.662000														19			17		0	0	0.004990	0	0
MYRIP	25924	broad.mit.edu	37	3	40291796	40291796	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:40291796G>A	uc003cka.3	+	13	2481	c.2346G>A	c.(2344-2346)cgG>cgA	p.R782R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R717R|MYRIP_uc010hhw.3_Silent_p.R693R|MYRIP_uc011ayz.2_Silent_p.R595R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	782	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAAGAAGACGGGATCAGAAGC	0.438000														41			25		0	0	0.003330	0	0
DRD3	1814	broad.mit.edu	37	3	113890723	113890723	+	Silent	SNP	G	A	A	rs149122773		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:113890723G>A	uc003ebd.2	-	2	540	c.117C>T	c.(115-117)ctC>ctT	p.L39L	DRD3_uc010hqn.1_Silent_p.L39L|DRD3_uc003ebb.1_Silent_p.L39L|DRD3_uc003ebc.1_Silent_p.L39L	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	39					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	p.L39L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGGCCAGGATGAGCGCGCAGT	0.612000														22			15		0	0	0.002450	0	0
C1orf94	84970	broad.mit.edu	37	1	34677988	34677988	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:34677988C>T	uc001bxt.3	+	5	2540	c.1702C>T	c.(1702-1704)Ctc>Ttc	p.L568F	C1orf94_uc001bxs.4_Missense_Mutation_p.L378F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	378							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				ACCGCAGTACCTCTTTCCCCA	0.577000														16			9		0	0	0.004482	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195936327	195936327	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:195936327G>A	uc003fwc.3	-	2	442	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	110						integral to membrane	acyltransferase activity|zinc ion binding	p.R110R(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATTGCAGGCGGAAGGCCCCG	0.652000														19			4		0	0	0.000248	0	0
FBN1	2200	broad.mit.edu	37	15	48748863	48748863	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:48748863A>C	uc001zwx.2	-	43	5788	c.5393T>G	c.(5392-5394)tTc>tGc	p.F1798C	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1798	EGF-like 29; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.F1797L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTCATTATAGAAGAATCCCAC	0.438000														51			30		0	0	0.001786	0	0
CNTN5	53942	broad.mit.edu	37	11	100170010	100170010	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:100170010C>T	uc001pga.3	+	19	3006	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	CNTN5_uc001pfz.3_Silent_p.F834F|CNTN5_uc021qpb.1_Silent_p.F834F|CNTN5_uc021qpc.1_Silent_p.F760F|CNTN5_uc010ruk.2_Silent_p.F105F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	834	Fibronectin type-III 2.				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)		CTTCCAAATTCATTTATCGAG	0.428000														3			36		0	0	0.004878	0	0
RERE	473	broad.mit.edu	37	1	8424199	8424199	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:8424199G>A	uc001ape.3	-	15	2467	c.1657C>T	c.(1657-1659)Ccg>Tcg	p.P553S	RERE_uc001apf.3_Missense_Mutation_p.P553S|RERE_uc010nzx.1_Missense_Mutation_p.P285S|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	553					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACATAAACGGTGGCGGGTCC	0.607000														60			24		0	0	0.002780	0	0
CCL15	6359	broad.mit.edu	37	17	34324841	34324841	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:34324841G>A	uc010wcu.2	-	3	857	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript	NM_032965	NP_116741	Q16663	CCL15_HUMAN	Homo sapiens chemokine (C-C motif) ligand 15 (CCL15), mRNA.	102					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCAATCCTGAACTCCCGGA	0.498000														17			15		0	0	0.004990	0	0
KRT33A	3883	broad.mit.edu	37	17	39504771	39504771	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:39504771C>T	uc002hwk.1	-	2	589	c.552G>A	c.(550-552)aaG>aaA	p.K184K		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	184	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCAGCTCCTCCTTCAGGGACT	0.597000														56			21		0	0	0.002299	0	0
KRT79	338785	broad.mit.edu	37	12	53217696	53217696	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:53217696C>T	uc001sbb.3	-	5	1154	c.1121G>A	c.(1120-1122)gGg>gAg	p.G374E	KRT79_uc001sba.3_Missense_Mutation_p.G145E	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	374	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCAGCCTCCCCCTGCAGCCT	0.612000														22			16		0	0	0.004990	0	0
COL28A1	340267	broad.mit.edu	37	7	7472283	7472283	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:7472283C>T	uc003src.1	-	23	2026	c.1909G>A	c.(1909-1911)Gat>Aat	p.D637N	COL28A1_uc011jxe.1_Missense_Mutation_p.D320N|COL28A1_uc003srd.3_Missense_Mutation_p.D192N|COL28A1_uc003sre.1_Missense_Mutation_p.D58N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	637					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)		GGATAGCCATCACCTTTGAGT	0.493000														272			15		0	0	0.006122	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670904	55670904	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55670904G>A	uc002qjl.1	-	10	1438	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Missense_Mutation_p.A227V|DNAAF3_uc002qji.1_Missense_Mutation_p.A412V|DNAAF3_uc002qjj.1_Missense_Mutation_p.A459V|DNAAF3_uc002qjk.1_Missense_Mutation_p.A358V	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	412																	GACTCACCGGGCTAATTCCAC	0.597000														115			41		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61898772	61898772	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:61898772G>A	uc001jky.3	-	23	3026	c.2688C>T	c.(2686-2688)tcC>tcT	p.S896S	ANK3_uc001jkw.3_Silent_p.S30S|ANK3_uc009xpa.3_Silent_p.S30S|ANK3_uc001jkx.3_Silent_p.S74S|ANK3_uc010qih.2_Silent_p.S897S|ANK3_uc001jkz.4_Silent_p.S890S|ANK3_uc001jlb.1_Silent_p.S404S|ANK3_uc001jlc.1_Silent_p.S536S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	896					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						CTGCAGGCAGGGAATCATCAC	0.468000														27			25		0	0	0.003330	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203737	23203737	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:23203737A>C	uc002dlm.1	+	3	822	c.683A>C	c.(682-684)gAg>gCg	p.E228A		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	228					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCATTCAGGAGTGGTATAAG	0.502000														48			36		0	0	0.004878	0	0
ASAH2	56624	broad.mit.edu	37	10	52008332	52008332	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:52008332C>T	uc001jjd.3	-	0	39	c.39G>A	c.(37-39)ctG>ctA	p.L13L	ASAH2_uc009xos.3_Silent_p.L13L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	13					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGAGGAAAATCAGGAATGTCT	0.433000														25			14		0	0	0.003163	0	0
HOXB13	10481	broad.mit.edu	37	17	46804343	46804343	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:46804343G>A	uc002ioa.3	-	1	820	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	MIR3185_uc021tzl.1_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	222					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						TTGCTGTACGGAATGCGTTTC	0.627000														30			44		0	0	0.002852	0	0
GPR179	440435	broad.mit.edu	37	17	36499518	36499518	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:36499518G>A	uc002hpz.3	-	0	176	c.155C>T	c.(154-156)cCc>cTc	p.P52L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	52						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCCCTCTAGGGGCACCTGCAT	0.617000														19			33		0	0	0.006230	0	0
PLIN4	729359	broad.mit.edu	37	19	4510756	4510756	+	Silent	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:4510756G>T	uc002mar.1	-	2	3174	c.3174C>A	c.(3172-3174)acC>acA	p.T1058T	PLIN4_uc010dub.1_Silent_p.T82T	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1058						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATTGTCTGTGGTCCTGGAAC	0.652000														15			14		0.000422831	0.000628409	0.004007	1	0
WDR49	151790	broad.mit.edu	37	3	167196724	167196724	+	Missense_Mutation	SNP	C	T	T	rs76736291	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:167196724C>T	uc003fev.1	-	14	2340	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	WDR49_uc003feu.1_Missense_Mutation_p.R504Q|WDR49_uc011bpd.1_Missense_Mutation_p.R644Q|WDR49_uc003few.1_3'UTR	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	679										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTGGCTTTTCGTTCATGATG	0.318000														35			13		0	0	0.001368	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964532	119964532	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:119964532C>T	uc001ehs.3	+	2	1181	c.408C>T	c.(406-408)atC>atT	p.I136I	HSD3B2_uc021ost.1_Silent_p.I136I|HSD3B2_uc001eht.3_Silent_p.I136I|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	136					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACAAGGAAATCATCCAGAACG	0.542000														89			35		0	0	0.002836	0	0
GPR108	56927	broad.mit.edu	37	19	6732361	6732361	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:6732361G>A	uc002mfp.3	-	11	1084	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	346						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CAATCAGGGCGATGGTGATGA	0.622000														33			17		0	0	0.007413	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766314	77766314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:77766314G>A	uc003yau.2	+	9	7544	c.7157G>A	c.(7156-7158)gGg>gAg	p.G2386E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2341E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2341	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGGCTCTGGGACCAGCACC	0.522000										HNSCC(33;0.089)				74			11		0	0	0.008291	0	0
VWCE	220001	broad.mit.edu	37	11	61042021	61042021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:61042021C>T	uc001nra.3	-	11	1810	c.1531G>A	c.(1531-1533)Ggg>Agg	p.G511R	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	511	VWFC 3.					extracellular region	calcium ion binding	p.G511W(2)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACACAGCCCCGTCTGCGTAC	0.572000														13			14		0	0	0.004990	0	0
PTPRB	5787	broad.mit.edu	37	12	70946726	70946726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:70946726G>A	uc001swb.4	-	18	4594	c.4564C>T	c.(4564-4566)Cgg>Tgg	p.R1522W	PTPRB_uc010sto.2_Missense_Mutation_p.R1432W|PTPRB_uc010stp.2_Missense_Mutation_p.R1432W|PTPRB_uc001swc.4_Missense_Mutation_p.R1740W|PTPRB_uc001swa.4_Missense_Mutation_p.R1652W	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1522	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATACACCCGAATGGAGGCA	0.483000														105			49		0	0	0.003610	0	0
C10orf81	79949	broad.mit.edu	37	10	115526193	115526193	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:115526193G>A	uc001lat.2	+	1	596	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	C10orf81_uc009xyc.2_5'UTR|C10orf81_uc001lar.2_Missense_Mutation_p.E18K|C10orf81_uc001las.2_Intron	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	12										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		ATTTTCTTATGAAAATGAAGT	0.348000														40			16		0	0	0.004007	0	0
ETV7	51513	broad.mit.edu	37	6	36334473	36334473	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:36334473C>T	uc003omb.3	-	7	1234	c.975G>A	c.(973-975)caG>caA	p.Q325Q	ETV7_uc003olz.2_Intron|ETV7_uc003oma.2_Intron|ETV7_uc003omc.3_Silent_p.Q270Q|ETV7_uc010jwj.3_Silent_p.Q266Q|ETV7_uc010jwi.3_Silent_p.Q248Q|ETV7_uc010jwh.3_Silent_p.Q244Q|ETV7_uc011dtl.2_Silent_p.Q174Q	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	325					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TGTCCTGCTCCTGGCTCTCCA	0.572000														129			22		0	0	0.002780	0	0
PRKCB	5579	broad.mit.edu	37	16	24104231	24104231	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:24104231T>C	uc002dmd.3	+	5	846	c.649T>C	c.(649-651)Tgc>Cgc	p.C217R	PRKCB_uc002dme.3_Missense_Mutation_p.C217R	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	217	C2.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AACCATCAAATGCTCCCTCAA	0.468000														30			23		0	0	0.003330	0	0
MLL5	55904	broad.mit.edu	37	7	104752452	104752452	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:104752452C>T	uc003vcm.3	+	26	4783	c.4249C>T	c.(4249-4251)Cct>Tct	p.P1417S	MLL5_uc010ljc.3_Missense_Mutation_p.P1417S|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.P151S	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1417					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						GAATCATCCTCCTCAGACACA	0.423000														25			27		0	0	0.005443	0	0
TBX20	57057	broad.mit.edu	37	7	35293225	35293225	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:35293225A>G	uc011kas.2	-	0	487	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	3						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GACGCCGTGAACTCCATGGTC	0.642000														13			15		0	0	0.001882	0	0
PTPRB	5787	broad.mit.edu	37	12	70953240	70953240	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:70953240C>T	uc001swb.4	-	15	3973	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	PTPRB_uc010sto.2_Missense_Mutation_p.E1225K|PTPRB_uc010stp.2_Missense_Mutation_p.E1225K|PTPRB_uc001swc.4_Missense_Mutation_p.E1533K|PTPRB_uc001swa.4_Missense_Mutation_p.E1445K|PTPRB_uc001swd.4_Missense_Mutation_p.E1532K|PTPRB_uc009zrr.2_Missense_Mutation_p.E1412K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1315	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGCGTCCTTCTGATTTTCTG	0.468000														170			62		0	0	0.003610	0	0
HTRA4	203100	broad.mit.edu	37	8	38832575	38832575	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:38832575G>A	uc003xmj.3	+	1	607	c.492G>A	c.(490-492)agG>agA	p.R164R		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	164					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCCCGCTCAGGAGGAATTACA	0.547000														166			49		0	0	0.003610	0	0
RUNX2	860	broad.mit.edu	37	6	45514872	45514872	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:45514872C>T	uc011dvx.2	+	8	1606	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	RUNX2_uc011dvy.2_Missense_Mutation_p.P444S|RUNX2_uc003oxt.3_Missense_Mutation_p.P452S	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	466	Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P466L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGACCGGTCTCCTTCCAGAAT	0.532000														90			18		0	0	0.004990	0	0
MLL2	8085	broad.mit.edu	37	12	49435896	49435896	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:49435896G>A	uc001rta.4	-	27	6085	c.6085C>T	c.(6085-6087)Cct>Tct	p.P2029S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2029					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTGAGATTAGGAAAATTAATG	0.542000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				27			4		0	0	0.001168	0	0
DOCK3	1795	broad.mit.edu	37	3	51297628	51297628	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:51297628C>T	uc011bds.2	+	22	2249	c.2226C>T	c.(2224-2226)atC>atT	p.I742I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	742						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTCACGGATCCTGTACTCAC	0.463000														19			13		0	0	0.003163	0	0
ADARB1	104	broad.mit.edu	37	21	46596181	46596181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:46596181C>T	uc002zgy.2	+	3	1000	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.P189S|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.P189S|ADARB1_uc010gpx.2_Intron|ADARB1_uc002zgr.2_Missense_Mutation_p.P189S|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc011afo.1_Missense_Mutation_p.P238S	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	189					RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGCGGAGCCTCCCTTTTACGT	0.592000														20			12		0	0	0.001368	0	0
ZNF17	7565	broad.mit.edu	37	19	57932571	57932571	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57932571C>T	uc002qop.1	+	3	1983	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	ZNF17_uc021vck.1_Missense_Mutation_p.R564W|ZNF17_uc002qoo.1_Missense_Mutation_p.R571W	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R571W(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCACCTCATTCGGCACCAAAA	0.403000														28			16		0	0	0.006122	0	0
IARS2	55699	broad.mit.edu	37	1	220312443	220312443	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:220312443C>A	uc001hmc.3	+	17	2373	c.2269C>A	c.(2269-2271)Cag>Aag	p.Q757K		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	757					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTCATAGACCAGTACATGCT	0.348000														58			20		1.01871e-10	1.52297e-10	0.008871	1	0
SEMA4A	64218	broad.mit.edu	37	1	156127865	156127865	+	Missense_Mutation	SNP	C	T	T	rs143382589		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:156127865C>T	uc001fnl.3	+	3	484	c.305C>T	c.(304-306)cCg>cTg	p.P102L	SEMA4A_uc009wrq.3_Missense_Mutation_p.P102L|SEMA4A_uc001fnm.3_Missense_Mutation_p.P102L|SEMA4A_uc001fnn.3_Missense_Mutation_p.P3L|SEMA4A_uc001fno.3_Missense_Mutation_p.P102L	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	102	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TTTCAGATACCGTGGCCAGCC	0.498000														43			11		0	0	0.000978	0	0
CEP250	11190	broad.mit.edu	37	20	34055193	34055193	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:34055193C>A	uc021wco.1	+	8	1311	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript|CEP250_uc002xco.3_Missense_Mutation_p.R29S	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	222					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGTTGTCTGCGCTTGACTGT	0.552000														129			43		3.77016e-25	5.66992e-25	0.003214	1	0
GOLGB1	2804	broad.mit.edu	37	3	121416026	121416026	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:121416026A>T	uc010hrc.3	-	12	3470	c.3344T>A	c.(3343-3345)tTg>tAg	p.L1115*	GOLGB1_uc003eei.4_Nonsense_Mutation_p.L1110*|GOLGB1_uc003eej.4_Nonsense_Mutation_p.L1076*|GOLGB1_uc021xcy.1_Nonsense_Mutation_p.L1035*|GOLGB1_uc011bjm.1_Nonsense_Mutation_p.L996*|GOLGB1_uc010hrd.1_Nonsense_Mutation_p.L1074*	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1110					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)		TGCTTGGAGCAAATCTATTTG	0.418000														88			38		0	0	0.004289	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767584	143767584	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:143767584T>G	uc001ejt.3	-	0	298	c.265A>C	c.(265-267)Atc>Ctc	p.I89L		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	89	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TGCTTTCGGATGAGGTTCTCA	0.468000														85			22		0	0	0.002780	0	0
GTF3C1	2975	broad.mit.edu	37	16	27476005	27476006	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:27476005_27476006GG>AA	uc002dov.2	-	33	5547_5548	c.5507_5508CC>TT	c.(5506-5508)ccc>cTT	p.P1836L	GTF3C1_uc002dou.3_Missense_Mutation_p.P1836L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1836						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACCCCTCCAGGGGTCTGGCCTG	0.673000														52			15		0	0	0.004672	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160667116	160667116	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:160667116G>A	uc002ubb.4	-	31	4694	c.4620C>T	c.(4618-4620)atC>atT	p.I1540I	LY75-CD302_uc010fos.3_Silent_p.I1540I|LY75-CD302_uc002ubc.4_Silent_p.I1540I	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1540					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCTTGTACTGGATCCACCGTG	0.383000														101			79		0	0	0.003610	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3390083	3390083	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:3390083G>A	uc001akg.4	+	7	1550	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	ARHGEF16_uc001aki.3_Missense_Mutation_p.M146I|ARHGEF16_uc001akj.3_Missense_Mutation_p.M146I|ARHGEF16_uc009vli.1_Missense_Mutation_p.M138I|ARHGEF16_uc010nzh.2_Missense_Mutation_p.M138I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	434	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCCTCCTGATGGATGTAAGTC	0.672000														67			15		0	0	0.004990	0	0
DGAT2	84649	broad.mit.edu	37	11	75501774	75501774	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:75501774C>T	uc001oxa.3	+	3	686	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	DGAT2_uc001oxb.3_Nonsense_Mutation_p.Q100*	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	143					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CTTTCCCATCCAGGTAAAGTG	0.517000														66			18		0	0	0.001523	0	0
FBXO46	23403	broad.mit.edu	37	19	46216473	46216473	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:46216473G>A	uc002pcz.3	-	1	404	c.281C>T	c.(280-282)cCc>cTc	p.P94L	FBXO46_uc002pcy.3_Missense_Mutation_p.P94L|FBXO46_uc021uvz.1_Missense_Mutation_p.P94L	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	94							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGTATTCCCGGGCTTGATGAC	0.637000														41			17		0	0	0.001882	0	0
GBP5	115362	broad.mit.edu	37	1	89730416	89730416	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:89730416T>A	uc001dnc.3	-	7	1639	c.1102A>T	c.(1102-1104)Aaa>Taa	p.K368*	GBP5_uc001dnd.3_Nonsense_Mutation_p.K368*|GBP5_uc001dne.1_Nonsense_Mutation_p.K368*	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	368						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		AAAGAGTTTTTCATGAAGACT	0.463000														30			32		0	0	0.002836	0	0
C6orf165	154313	broad.mit.edu	37	6	88144610	88144610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:88144610G>A	uc003plv.3	+	10	1456	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Missense_Mutation_p.E445K|C6orf165_uc003plw.3_Missense_Mutation_p.E257K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	445										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAAATATAAAGAAAAATATTA	0.264000														13			5		0	0	0.000602	0	0
CCR9	10803	broad.mit.edu	37	3	45943326	45943326	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:45943326G>A	uc003coz.2	+	2	1226	c.1046G>A	c.(1045-1047)aGa>aAa	p.R349K	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.R337K|CCR9_uc003cpa.2_Missense_Mutation_p.R337K|CCR9_uc021wwv.1_Missense_Mutation_p.R337K	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	349					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TTTACAAGGAGAGAGGGAAGC	0.512000														44			17		0	0	0.007413	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:34851465C>T	uc003teh.1	+	3	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000														34			38		0	0	0.006230	0	0
AFAP1	60312	broad.mit.edu	37	4	7844898	7844898	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:7844898A>G	uc011bwk.1	-	4	787	c.514T>C	c.(514-516)Ttg>Ctg	p.L172L	AFAP1_uc003gkg.1_Silent_p.L172L	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	172	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACGCAGAGCAACTTGGTCCAC	0.532000														138			27		0	0	0.008361	0	0
CDS1	1040	broad.mit.edu	37	4	85525461	85525461	+	Silent	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:85525461T>C	uc011ccv.2	+	1	681	c.183T>C	c.(181-183)atT>atC	p.I61I		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	61					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TTCCGGAAATTCCACCATCCT	0.343000														29			23		0	0	0.002780	0	0
KLC4	89953	broad.mit.edu	37	6	43034148	43034148	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43034148C>T	uc003otw.1	+	4	1049	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Missense_Mutation_p.R226C|KLC4_uc003otv.1_Missense_Mutation_p.R226C|KLC4_uc011dvd.1_Missense_Mutation_p.R149C|KLC4_uc003otx.1_Missense_Mutation_p.R226C|KLC4_uc003oty.1_Missense_Mutation_p.R226C|KLC4_uc003otz.1_Missense_Mutation_p.R226C	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	226						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCCCAAGGTCGCTATGAGGT	0.597000														98			22		0	0	0.002780	0	0
AGXT2	64902	broad.mit.edu	37	5	35010218	35010218	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:35010218C>T	uc003jjf.3	-	11	1468	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	AGXT2_uc003jje.1_Missense_Mutation_p.E62K|AGXT2_uc011com.2_Missense_Mutation_p.E334K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	409					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GTCCCAACTTCTTGACTGTTT	0.398000														56			50		0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62935951	62935951	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:62935951C>T	uc010ihh.3	+	22	3908	c.3735C>T	c.(3733-3735)gaC>gaT	p.D1245D	LPHN3_uc003hcq.4_3'UTR|LPHN3_uc003hct.3_Silent_p.D629D	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	1223					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAATCATAGACCGTGGCTATA	0.453000														27			7		0	0	0.001984	0	0
RTP4	64108	broad.mit.edu	37	3	187088772	187088772	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:187088772C>T	uc003frm.3	+	1	414	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L		NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 4 (RTP4), mRNA.	118					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TCTGAGCAACCTGGTGCAGCA	0.502000														29			8		0	0	0.004482	0	0
SYT10	341359	broad.mit.edu	37	12	33579230	33579230	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:33579230C>T	uc001rll.1	-	1	649	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	118						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTCATTTTCCTTAATTTCT	0.408000														190			40		0	0	0.006230	0	0
POTEH	23784	broad.mit.edu	37	22	16287309	16287309	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:16287309C>T	uc010gqp.2	-	0	629	c.577G>A	c.(577-579)Gat>Aat	p.D193N	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.D28N	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	193								p.D193V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGATGAGATCCTTTCTGGGG	0.552000														100			6		0	0	0.004007	0	0
IGSF9	57549	broad.mit.edu	37	1	159904006	159904007	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159904006_159904007CC>TT	uc001fur.2	-	8	1275_1276	c.1077_1078GG>AA	c.(1075-1080)aaggat>aaAAat	p.D360N	IGSF9_uc001fuq.2_Missense_Mutation_p.D344N|IGSF9_uc001fup.2_5'Flank	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	360	Ig-like 4.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTTTCCATCCTTGGTCCAGC	0.614000														10			22		0	0	0.004672	0	0
VARS	7407	broad.mit.edu	37	6	31762881	31762881	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31762881G>A	uc003nxe.3	-	1	537	c.114C>T	c.(112-114)ccC>ccT	p.P38P	VARS_uc011doi.1_Intron	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	38					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GACAGATGCGGGGGTGGGCTC	0.721000														293			64		0	0	0.003610	0	0
DENND4B	9909	broad.mit.edu	37	1	153906615	153906615	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:153906615G>A	uc001fdd.1	-	18	3338	c.2937C>T	c.(2935-2937)gcC>gcT	p.A979A		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	979										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCACTGTGGGCCACACCGG	0.637000														12			3		0	0	0.004672	0	0
KRT6B	3854	broad.mit.edu	37	12	52841607	52841607	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52841607A>C	uc001sak.3	-	6	1427	c.1379T>G	c.(1378-1380)gTg>gGg	p.V460G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	460	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGCGATCTCCACATCCAGGGC	0.612000														84			29		0	0	0.003271	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475386	52475386	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:52475386G>A	uc003dea.1	-	6	707	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	236	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTCCTGGTCAGAGTTCTCAGG	0.627000														36			24		0	0	0.003954	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38411496	38411496	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:38411496G>A	uc004aba.3	-	3	761	c.738C>T	c.(736-738)gcC>gcT	p.A246A	AK131521_uc004aaz.2_5'Flank	NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	246	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCACCATGTTGGCTGCATGGC	0.488000														38			18		0	0	0.008871	0	0
KLHL24	54800	broad.mit.edu	37	3	183368597	183368598	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183368597_183368598CC>TT	uc003flv.3	+	2	748_749	c.453_454CC>TT	c.(451-456)ctccgt>ctTTgt	p.R152C	KLHL24_uc003flw.3_Missense_Mutation_p.R152C|KLHL24_uc003flx.3_Missense_Mutation_p.R152C	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	152						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TTAGTGTTCTCCGTGATGCATG	0.406000														87			30		0	0	0.004672	0	0
OR2T1	26696	broad.mit.edu	37	1	248570074	248570074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:248570074C>T	uc010pzm.2	+	0	779	c.779C>T	c.(778-780)cCt>cTt	p.P260L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			CTGCTGATTCCTTTCTCTGTA	0.507000														66			18		0	0	0.006122	0	0
RANGAP1	5905	broad.mit.edu	37	22	41648895	41648895	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:41648895G>A	uc003azs.3	-	10	2831	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	RANGAP1_uc003azt.3_Missense_Mutation_p.S454F|RANGAP1_uc003azu.3_Missense_Mutation_p.S454F|RANGAP1_uc011aoz.2_Missense_Mutation_p.S399F	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	454					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATCAGCACGGAGCTCTTGGG	0.607000														50			19		0	0	0.008871	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184920	118184920	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:118184920G>A	uc003yoh.3	+	7	1340	c.1110G>A	c.(1108-1110)taG>taA	p.*370*	SLC30A8_uc010mcz.3_Silent_p.*321*|SLC30A8_uc003yog.3_Silent_p.*321*|SLC30A8_uc011lia.2_Silent_p.*321*|SLC30A8_uc022bab.1_Silent_p.*321*	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	0					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CCTGTGACTAGCTCAGTCACA	0.463000														380			83		0	0	0.003610	0	0
KCNH3	23416	broad.mit.edu	37	12	49951630	49951630	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:49951630G>A	uc001ruh.1	+	14	3406	c.3146G>A	c.(3145-3147)gGg>gAg	p.G1049E	KCNH3_uc010smj.1_Missense_Mutation_p.G989E	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	1049	Pro-rich.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCAGGGTCAGGGGGCCTGGCC	0.667000														25			6		0	0	0.003080	0	0
SLC1A1	6505	broad.mit.edu	37	9	4585528	4585528	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:4585528C>T	uc003zij.2	+	11	1798	c.1545C>T	c.(1543-1545)acC>acT	p.T515T	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	515					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AGTCTGACACCATCTCATTCA	0.473000														104			20		0	0	0.007413	0	0
HMCN1	83872	broad.mit.edu	37	1	186083184	186083184	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:186083184C>T	uc001grq.1	+	72	11434	c.11205C>T	c.(11203-11205)atC>atT	p.I3735I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3735	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAATGCATCGCTGAAGGTG	0.408000														93			82		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9061543	9061543	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9061543C>T	uc002mkp.3	-	2	26107	c.25903G>A	c.(25903-25905)Gat>Aat	p.D8635N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8637	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						TTCTCTCTATCTTTGGTGACT	0.438000														27			24		0	0	0.003330	0	0
TRIM55	84675	broad.mit.edu	37	8	67040674	67040674	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:67040674G>A	uc003xvv.3	+	1	530	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TRIM55_uc003xvu.3_Missense_Mutation_p.E102K|TRIM55_uc003xvw.3_Missense_Mutation_p.E102K|TRIM55_uc003xvx.3_Missense_Mutation_p.E102K	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	102				E -> G (in Ref. 2; CAC43019/CAC43020).		cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCTGCTGGTGGAAAATATCAT	0.468000														205			22		0	0	0.007291	0	0
BTBD11	121551	broad.mit.edu	37	12	108051454	108051454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:108051454C>T	uc001tmk.1	+	16	3795	c.3274C>T	c.(3274-3276)Cag>Tag	p.Q1092*	BTBD11_uc001tml.1_Nonsense_Mutation_p.Q629*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Q171*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1092						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CATCAGAATTCAGTCCATCCA	0.512000														73			30		0	0	0.002445	0	0
ATP2B1	490	broad.mit.edu	37	12	90010769	90010769	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:90010769G>A	uc001tbh.3	-	10	2058	c.1877C>T	c.(1876-1878)cCa>cTa	p.P626L	ATP2B1_uc001tbg.3_Missense_Mutation_p.P626L|ATP2B1_uc001tbf.3_Missense_Mutation_p.P296L	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	626					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ACGGTCCCTTGGTCTGAATAC	0.358000														83			27		0	0	0.004656	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060160	35060160	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:35060160G>A	uc002xff.3	+	2	475	c.40G>A	c.(40-42)Gac>Aac	p.D14N	DLGAP4_uc010zvp.2_Missense_Mutation_p.D14N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	14					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCACCTCTCCGACAGCCTAGA	0.726000														33			9		0	0	0.004482	0	0
KCNH4	23415	broad.mit.edu	37	17	40330388	40330388	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:40330388C>T	uc002hzb.2	-	2	751	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	140	PAC.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCCAAGTCCTGGGCTTCCA	0.562000														10			24		0	0	0.004656	0	0
MFSD4	148808	broad.mit.edu	37	1	205549855	205549855	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:205549855G>A	uc001hcv.4	+	2	582	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MFSD4_uc010prk.2_Intron|MFSD4_uc010prl.2_Non-coding_Transcript|MFSD4_uc010prm.2_Missense_Mutation_p.E111K	NM_181644	NP_857595	Q8N468	MFSD4_HUMAN	Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA.	166					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTTCCTGTCTGAGGCCAACTG	0.617000														42			110		0	0	0.003610	0	0
TRAM1L1	133022	broad.mit.edu	37	4	118006361	118006361	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:118006361C>T	uc003ibv.4	-	0	376	c.189G>A	c.(187-189)gaG>gaA	p.E63E		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	63					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TGGCTTGTTCCTCTGCTGCAG	0.493000														15			12		0	0	0.001368	0	0
DTNA	1837	broad.mit.edu	37	18	32462040	32462040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:32462040G>A	uc010dmn.1	+	19	2090	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	DTNA_uc002kxw.2_Missense_Mutation_p.E640K|DTNA_uc002kxz.2_Missense_Mutation_p.E644K|DTNA_uc002kxy.2_Missense_Mutation_p.E637K|DTNA_uc010dmj.3_Missense_Mutation_p.E637K|DTNA_uc010xby.1_Missense_Mutation_p.E387K|DTNA_uc002kye.3_Missense_Mutation_p.E345K|DTNA_uc010xca.2_Missense_Mutation_p.E349K|DTNA_uc010xbz.2_Missense_Mutation_p.E406K	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	697					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGGGTTACGGAGGATGCAGA	0.438000														24			18		0	0	0.001523	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394984	233394984	+	Silent	SNP	C	T	T	rs117316984	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:233394984C>T	uc001hvl.2	-	4	859	c.624G>A	c.(622-624)acG>acA	p.T208T	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	208						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGACTTGGTCGTGGTTTCCA	0.478000														74			69		0	0	0.003610	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670969	55670969	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55670969G>A	uc002qjl.1	-	10	1373	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Silent_p.V205V|DNAAF3_uc002qji.1_Silent_p.V390V|DNAAF3_uc002qjj.1_Silent_p.V437V|DNAAF3_uc002qjk.1_Silent_p.V336V	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	390																	TGAGAAGATGGACCATACTGC	0.597000														65			25		0	0	0.003330	0	0
SSH2	85464	broad.mit.edu	37	17	27959827	27959827	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:27959827C>A	uc002heo.1	-	14	2304	c.2304G>T	c.(2302-2304)ctG>ctT	p.L768L	SSH2_uc010wbh.1_Silent_p.L795L	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	768					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCTCCTTTCAGTTGAATCT	0.463000														41			11		6.40141e-05	9.51804e-05	0.000978	1	0
PREX1	57580	broad.mit.edu	37	20	47267430	47267430	+	Splice_Site	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:47267430A>C	uc002xtw.1	-	23	2840	c.2817_splice	c.e23+1	p.E939_splice	PREX1_uc002xtv.1_Splice_Site_p.E236_splice	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	939					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCACGCAGGCACCTCCTGGTA	0.567000														24			15		0	0	0.004007	0	0
PLA1A	51365	broad.mit.edu	37	3	119328383	119328383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:119328383G>A	uc003ecu.3	+	3	588	c.522G>A	c.(520-522)atG>atA	p.M174I	PLA1A_uc003ecv.3_Missense_Mutation_p.M158I|PLA1A_uc011bjc.2_Missense_Mutation_p.M1I|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	174					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGGGCATGGTGGGACAGC	0.562000														92			31		0	0	0.004289	0	0
LIN7A	8825	broad.mit.edu	37	12	81239577	81239577	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:81239577G>A	uc001szj.1	-	3	608	c.415C>T	c.(415-417)Cct>Tct	p.P139S	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	139	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ACCCCTCCAGGAATTATGCGA	0.458000														67			34		0	0	0.003755	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832552	45832552	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:45832552C>T	uc001nbp.3	+	1	1473	c.761C>T	c.(760-762)gCc>gTc	p.A254V	SLC35C1_uc001nbo.3_Missense_Mutation_p.A241V|SLC35C1_uc010rgm.2_Missense_Mutation_p.A241V	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	254						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GAGCTTCAGGCCCTGCGTGAC	0.637000														14			11		0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858655	9858655	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:9858655C>T	uc010uym.2	-	13	3056	c.2746G>A	c.(2746-2748)Gac>Aac	p.D916N	GRIN2A_uc002czo.4_Missense_Mutation_p.D916N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D759N|GRIN2A_uc002czr.4_Missense_Mutation_p.D916N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	916					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGGTGAGTCCATTCTTGAG	0.458000														85			58		0	0	0.003610	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455825	62455825	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62455825G>A	uc021qkm.1	-	0	156	c.156C>T	c.(154-156)caC>caT	p.H52H	LRRN4CL_uc001nun.3_Silent_p.H52H	NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	Homo sapiens LRRN4 C-terminal like (LRRN4CL), mRNA.	52						integral to membrane				cervix(1)|kidney(1)	2						GGTGTCGGCAGTGGTCGTAGT	0.687000														18			8		0	0	0.004482	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642587	127642587	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:127642587C>T	uc010hsr.3	+	0	686	c.683C>T	c.(682-684)tCt>tTt	p.S228F	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.S228F	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	228	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GTAAATCCTTCTTTTTTAAGA	0.383000														45			22		0	0	0.001523	0	0
PTPRK	5796	broad.mit.edu	37	6	128306886	128306886	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:128306886G>A	uc003qbk.3	-	21	3595	c.3228C>T	c.(3226-3228)ggC>ggT	p.G1076G	PTPRK_uc010kfc.3_Silent_p.G1083G|PTPRK_uc003qbj.3_Silent_p.G1077G|PTPRK_uc011ebu.2_Silent_p.G1099G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1076	Tyrosine-protein phosphatase 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)		CAACGATGGGGCCAGCACTGG	0.483000														24			17		0	0	0.004007	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1904487	1904487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:1904487G>A	uc021qsx.1	-	36	3518	c.3287C>T	c.(3286-3288)tCc>tTc	p.S1096F		NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	1096						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGCGTGGCAGGAGTCTGGTCG	0.592000														21			10		0	0	0.001368	0	0
PRR19	284338	broad.mit.edu	37	19	42813859	42813859	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:42813859C>T	uc002oti.3	+	1	501	c.123C>T	c.(121-123)gcC>gcT	p.A41A	PRR19_uc002oth.1_Silent_p.A41A|PRR19_uc002otj.3_Silent_p.A41A	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	41										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGCCATTAGCCCACCACGATC	0.647000														29			20		0	0	0.001523	0	0
HYDIN	54768	broad.mit.edu	37	16	70998635	70998635	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:70998635C>T	uc002ezr.3	-	36	5932	c.5781G>A	c.(5779-5781)gaG>gaA	p.E1927E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1928										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTCACCATTCTCCTGTGCCA	0.493000														18			7		0	0	0.000978	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410611	32410611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:32410611G>A	uc010glt.3	-	0	185	c.152C>T	c.(151-153)cCa>cTa	p.P51L		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	51						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GTAGTATAATGGTCGGCAACA	0.493000														103			39		0	0	0.007835	0	0
CHRM5	1133	broad.mit.edu	37	15	34356426	34356426	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:34356426G>A	uc001zhk.1	+	2	2178	c.1508G>A	c.(1507-1509)aGg>aAg	p.R503K	CHRM5_uc001zhl.1_Missense_Mutation_p.R503K|CHRM5_uc021sir.1_Missense_Mutation_p.R503K	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	503					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AGAACCTTCAGGAAGACCTTT	0.483000														10			27		0	0	0.007291	0	0
OR6C75	390323	broad.mit.edu	37	12	55759263	55759263	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:55759263C>T	uc010spk.2	+	0	369	c.369C>T	c.(367-369)gcC>gcT	p.A123A		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	123					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						GCTGCATGGCCATCTGCAAAC	0.453000														34			15		0	0	0.002450	0	0
HEATR8	374977	broad.mit.edu	37	1	55136553	55136553	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:55136553C>T	uc010ooe.1	+	6	1874	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.S85F|HEATR8_uc010ood.1_Missense_Mutation_p.S35F|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.S517F|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	517						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCCCTGCCCTCCGTGCAGGCG	0.652000														6			8		0	0	0.008291	0	0
TGM1	7051	broad.mit.edu	37	14	24728447	24728447	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:24728447G>A	uc001wod.3	-	6	1117	c.993C>T	c.(991-993)tcC>tcT	p.S331S	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	331			S -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGTCATCCAGGGAGTTCACCT	0.622000														6			4		0	0	0.000248	0	0
PLA2R1	22925	broad.mit.edu	37	2	160833917	160833917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:160833917G>A	uc002ube.2	-	14	2491	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L	PLA2R1_uc010zcp.2_Missense_Mutation_p.S760L|PLA2R1_uc002ubf.3_Missense_Mutation_p.S760L	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	760	C-type lectin 4.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTCTAAAAACGAAGAGACAAC	0.388000														23			14		0	0	0.001855	0	0
WNT7B	7477	broad.mit.edu	37	22	46318890	46318890	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:46318890G>A	uc010haa.2	-	3	1035	c.908C>T	c.(907-909)cCc>cTc	p.P303L	WNT7B_uc003bgo.2_Missense_Mutation_p.P299L	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	299					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCGCGCCGGGCGACGTGCG	0.642000														10			22		0	0	0.002780	0	0
CWH43	80157	broad.mit.edu	37	4	49019268	49019268	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:49019268C>T	uc003gyv.3	+	8	1371	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	CWH43_uc011bzl.2_Silent_p.L370L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	397					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTGTTTAGTTCTGTGGCTGCT	0.368000														85			32		0	0	0.003271	0	0
ASMT	438	broad.mit.edu	37	X	1761794	1761794	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:1761794G>A	uc004cqd.3	+	9	1225	c.1009G>A	c.(1009-1011)Ggg>Agg	p.G337R	ASMT_uc010ncy.3_Missense_Mutation_p.G337R|ASMT_uc004cqe.3_Missense_Mutation_p.G262R	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	309					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGACGGAAGGGCAGGAGAG	0.517000														117			25		0	0	0.003954	0	0
FOXP4	116113	broad.mit.edu	37	6	41558050	41558050	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41558050C>T	uc003oql.3	+	11	1857	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	FOXP4_uc003oqm.3_Missense_Mutation_p.R465W|FOXP4_uc003oqn.3_Missense_Mutation_p.R454W	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	467					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGCCGACGTCCGGCCCCCCTT	0.632000														158			22		0	0	0.002780	0	0
SCN5A	6331	broad.mit.edu	37	3	38622667	38622668	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:38622667_38622668GG>AA	uc021wvo.1	-	15	3034_3035	c.2982_2983CC>TT	c.(2980-2985)gccctt>gcTTtt	p.L995F	SCN5A_uc021wvk.1_Missense_Mutation_p.L995F|SCN5A_uc021wvl.1_Missense_Mutation_p.L995F|SCN5A_uc021wvm.1_Missense_Mutation_p.L995F|SCN5A_uc021wvn.1_Missense_Mutation_p.L995F|SCN5A_uc021wvp.1_Missense_Mutation_p.L995F|SCN5A_uc021wvq.1_Missense_Mutation_p.L995F|SCN5A_uc021wvr.1_Missense_Mutation_p.L995F|SCN5A_uc021wvs.1_Missense_Mutation_p.L995F|SCN5A_uc021wvt.1_Missense_Mutation_p.L995F|SCN5A_uc021wvu.1_Missense_Mutation_p.L995F|SCN5A_uc021wvv.1_Missense_Mutation_p.L995F|SCN5A_uc021wvj.1_Missense_Mutation_p.L861F|SCN5A_uc021wvi.1_Missense_Mutation_p.L861F|SCN5A_uc021wvw.1_Missense_Mutation_p.L606F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	995					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	p.A994S(1)		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)	TGGGCGGCAAGGGCTGCGGGCT	0.683000														17			4		0	0	0.004672	0	0
AWAT2	158835	broad.mit.edu	37	X	69262176	69262176	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:69262176G>A	uc004dxt.1	-	5	714	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	236						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						CACCAGGAGTGAAAATGTGCT	0.498000														5			15		0	0	0.004990	0	0
PRB3	5544	broad.mit.edu	37	12	11420678	11420678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:11420678C>T	uc001qzs.3	-	2	543	c.505G>A	c.(505-507)Gga>Aga	p.G169R	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	169	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGTTTCCTCCTTGTGGGGGT	0.652000														74			44		0	0	0.003610	0	0
C7orf31	136895	broad.mit.edu	37	7	25182418	25182418	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:25182418C>G	uc003sxn.1	-	7	1261	c.700G>C	c.(700-702)Gag>Cag	p.E234Q		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	234										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATTTTTCTCAACACCTCTG	0.383000														29			30		0	0	0.001786	0	0
SPTBN1	6711	broad.mit.edu	37	2	54872557	54872557	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:54872557C>T	uc002rxu.3	+	20	4710	c.4461C>T	c.(4459-4461)atC>atT	p.I1487I	SPTBN1_uc002rxx.3_Silent_p.I1474I	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1487					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCAAAGAGATCCATCAGTTCA	0.552000														44			16		0	0	0.003163	0	0
FA2H	79152	broad.mit.edu	37	16	74752957	74752958	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:74752957_74752958GG>AC	uc002fde.2	-	4	790_791	c.714_715CC>GT	c.(712-717)ttccac>ttGTac	p.238_239FH>LY	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	238					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGCTTCATGTGGAACAGGAAGC	0.614000														39			16		0	0	0.004672	0	0
CCR3	1232	broad.mit.edu	37	3	46307396	46307396	+	Silent	SNP	C	T	T	rs76939117		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:46307396C>T	uc003cpl.2	+	2	1877	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CCR3_uc003cpg.2_Silent_p.F249F|CCR3_uc003cpk.2_Silent_p.F270F|CCR3_uc003cpi.2_Silent_p.F249F|CCR3_uc010hjb.2_Silent_p.F267F|CCR3_uc003cpj.2_Silent_p.F249F|CCR3_uc021wwz.1_Silent_p.F249F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	249					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CGGTGTTTTTCATTTTCTGGA	0.458000														60			17		0	0	0.008871	0	0
ITGA8	8516	broad.mit.edu	37	10	15614220	15614220	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:15614220T>C	uc001ioc.1	-	24	2627	c.2627A>G	c.(2626-2628)cAg>cGg	p.Q876R	ITGA8_uc010qcb.1_Missense_Mutation_p.Q861R	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	876					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P875S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTTTATATCCTGTGGATTGAT	0.383000														38			24		0	0	0.006320	0	0
SCGB3A2	117156	broad.mit.edu	37	5	147258400	147258400	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:147258400A>G	uc003lot.2	+	0	127	c.34A>G	c.(34-36)Atc>Gtc	p.I12V		NM_054023	NP_473364	Q96PL1	SG3A2_HUMAN	Homo sapiens secretoglobin, family 3A, member 2 (SCGB3A2), mRNA.	12						extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGACCATCAGCCTTTG	0.373000														103			79		0	0	0.003610	0	0
ACSS3	79611	broad.mit.edu	37	12	81536964	81536964	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:81536964C>T	uc001szl.1	+	4	950	c.859C>T	c.(859-861)Cct>Tct	p.P287S	ACSS3_uc001szm.1_Missense_Mutation_p.P286S	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	287						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGACTGTGTTCCTGTTCTTTC	0.448000														44			18		0	0	0.007413	0	0
CPT1A	1374	broad.mit.edu	37	11	68529011	68529011	+	Missense_Mutation	SNP	G	A	A	rs75908421		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:68529011G>A	uc001oog.4	-	15	2190	c.2020C>T	c.(2020-2022)Ctt>Ttt	p.L674F	CPT1A_uc001oof.4_Missense_Mutation_p.L674F	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	674					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTCCTTAAGGAAAGGGGAC	0.448000														46			94		0	0	0.003610	0	0
MAP4K4	9448	broad.mit.edu	37	2	102477313	102477313	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:102477313C>T	uc002tbc.3	+	15	2109	c.1731C>T	c.(1729-1731)aaC>aaT	p.N577N	MAP4K4_uc002tbf.3_Silent_p.N546N|MAP4K4_uc002tbd.3_Silent_p.N546N|MAP4K4_uc010yvy.2_Intron|MAP4K4_uc002tbh.3_Intron|MAP4K4_uc002tbg.3_Silent_p.N577N|MAP4K4_uc002tbi.3_Intron|MAP4K4_uc010yvz.2_Intron|MAP4K4_uc002tbk.3_Intron|MAP4K4_uc021vlq.1_Intron|MAP4K4_uc002tbj.1_3'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	527					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	p.N577K(2)		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						GGAAAACTAACCACAGCTCCC	0.448000														3			7		0	0	0.008291	0	0
NAT10	55226	broad.mit.edu	37	11	34135386	34135386	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:34135386G>A	uc001mvk.3	+	5	739	c.495_splice	c.e5+1	p.M165_splice	NAT10_uc010ren.2_Splice_Site_p.M93_splice	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	165						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AGTGACTATGGTAAGCATCTG	0.443000														24			57		0	0	0.003610	0	0
DEFB136	613210	broad.mit.edu	37	8	11831451	11831451	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:11831451G>A	uc011kxm.2	-	1	232	c.232C>T	c.(232-234)Cat>Tat	p.H78Y		NM_001033018	NP_001028190	Q30KP8	DB136_HUMAN	Homo sapiens defensin, beta 136 (DEFB136), mRNA.	78					defense response to bacterium	extracellular region				endometrium(2)|large_intestine(1)|lung(4)	7			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.163)		TCCTTTTAATGAACCCATGGA	0.453000														165			49		0	0	0.003610	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724259	7724259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:7724259C>T	uc001aoi.3	+	8	1859	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			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)		TACTCCTCCTCCGCGGCGGCT	0.667000			T	WWTR1	epitheliod hemangioendothelioma									38			11		0	0	0.001368	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57080341	57080341	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57080341G>A	uc001njr.3	-	3	2133	c.1821C>T	c.(1819-1821)acC>acT	p.T607T	TNKS1BP1_uc001njs.3_Silent_p.T607T|TNKS1BP1_uc009ymd.1_Silent_p.T58T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	607	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCCTCCCTGGTAGCCAGGG	0.637000														65			20		0	0	0.002780	0	0
PEG3	5178	broad.mit.edu	37	19	57334191	57334191	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57334191C>T	uc002qnu.2	-	2	846	c.495G>A	c.(493-495)tgG>tgA	p.W165*	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Nonsense_Mutation_p.W40*|PEG3_uc010etp.2_Nonsense_Mutation_p.W40*|PEG3_uc010ygs.1_Nonsense_Mutation_p.W40*|PEG3_uc002qnq.2_Nonsense_Mutation_p.W40*|PEG3_uc002qnt.2_Nonsense_Mutation_p.W166*|PEG3_uc002qnv.2_Nonsense_Mutation_p.W165*|PEG3_uc002qnw.2_Nonsense_Mutation_p.W40*|PEG3_uc002qnx.2_Nonsense_Mutation_p.W39*|PEG3_uc010etr.2_Nonsense_Mutation_p.W165*	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	165					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCCTCCGGTCCCAGTCCCGGT	0.537000														9			10		0	0	0.006214	0	0
PTPN14	5784	broad.mit.edu	37	1	214556883	214556883	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:214556883G>A	uc001hkk.2	-	12	2968	c.2315C>T	c.(2314-2316)cCt>cTt	p.P772L	PTPN14_uc021piy.1_Missense_Mutation_p.P536L|PTPN14_uc010pty.2_Missense_Mutation_p.P673L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	772					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGGCGGGAGGAAGGCTGGC	0.682000														43			7		0	0	0.003080	0	0
ABT1	29777	broad.mit.edu	37	6	26598510	26598510	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:26598510C>T	uc003nii.3	+	2	496	c.456C>T	c.(454-456)acC>acT	p.T152T		NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN	Homo sapiens activator of basal transcription 1 (ABT1), mRNA.	152					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						ACCGTTTCACCTGGTCCCACC	0.557000														177			30		0	0	0.005524	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917849	65917849	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:65917849C>T	uc010ujf.2	+	1	1718	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	SLC24A1_uc010ujd.1_Silent_p.F477F|SLC24A1_uc010uje.1_Silent_p.F477F|SLC24A1_uc010ujg.2_Silent_p.F477F|SLC24A1_uc010ujh.2_Silent_p.F477F	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	477					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACGAGTACTTCGTTCCAGCCC	0.572000														40			41		0	0	0.007835	0	0
TBX15	6913	broad.mit.edu	37	1	119428089	119428089	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:119428089G>A	uc001ehl.1	-	7	1072	c.757C>T	c.(757-759)Cct>Tct	p.P253S	TBX15_uc009whj.1_Missense_Mutation_p.P77S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	359						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)		GAAGCCGAAGGGGATGGTGTC	0.488000														18			6		0	0	0.003080	0	0
NR4A3	8013	broad.mit.edu	37	9	102590329	102590329	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:102590329C>T	uc022bky.1	+	3	806	c.38C>T	c.(37-39)cCc>cTc	p.P13L	NR4A3_uc004bae.3_Missense_Mutation_p.P2L|NR4A3_uc004baf.1_Missense_Mutation_p.P2L	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	2					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCAGATATGCCCTGCGTCCAA	0.512000			T	EWSR1	extraskeletal myxoid chondrosarcoma									29			16		0	0	0.003163	0	0
ZNF676	163223	broad.mit.edu	37	19	22363614	22363614	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:22363614A>G	uc002nqs.1	-	2	1223	c.905T>C	c.(904-906)aTt>aCt	p.I302T		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCCAGTATGAATTCTCTTATG	0.428000														33			17		0	0	0.001523	0	0
KCNA10	3744	broad.mit.edu	37	1	111060402	111060402	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:111060402G>A	uc001dzt.1	-	0	1396	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	336						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGATGGCCAGGGACATGTTCT	0.542000														85			37		0	0	0.002852	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54107577	54107577	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:54107577G>A	uc001sef.3	-	12	1843	c.1699C>T	c.(1699-1701)Cct>Tct	p.P567S	CALCOCO1_uc001see.3_Missense_Mutation_p.P68S|CALCOCO1_uc010som.2_Missense_Mutation_p.P482S|CALCOCO1_uc010son.2_Missense_Mutation_p.P444S|CALCOCO1_uc009znd.3_Missense_Mutation_p.P567S|CALCOCO1_uc001seg.3_Missense_Mutation_p.P392S|CALCOCO1_uc001seh.2_Missense_Mutation_p.P567S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	567	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.P567R(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCTCTCGAGGCCCAGCAGGA	0.612000														56			33		0	0	0.003755	0	0
NEGR1	257194	broad.mit.edu	37	1	71873147	71873147	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:71873147C>A	uc001dfw.3	-	6	1275	c.1047G>T	c.(1045-1047)aaG>aaT	p.K349N	NEGR1_uc001dfv.3_Missense_Mutation_p.K221N|NEGR1_uc010oqs.2_Missense_Mutation_p.K305N	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	349					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAATGGCATTCTTCAGGTAGA	0.428000														17			12		5.50884e-06	8.21695e-06	0.001368	1	0
C11orf41	25758	broad.mit.edu	37	11	33564018	33564018	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:33564018C>T	uc021qfs.1	+	0	142	c.18C>T	c.(16-18)tcC>tcT	p.S6S	C11orf41_uc001mun.1_Silent_p.S6S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	6						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						ACACTGCATCCCAAAATGCCC	0.493000														30			7		0	0	0.001984	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450167	54450167	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:54450167C>T	uc002iun.1	+	5	806	c.771C>T	c.(769-771)ctC>ctT	p.L257L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	257								p.L257L(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGTATCGGCTCTACAGACGCA	0.483000														90			130		0	0	0.003610	0	0
GDPD2	54857	broad.mit.edu	37	X	69646512	69646512	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:69646512C>T	uc011mpk.2	+	6	838	c.477C>T	c.(475-477)ttC>ttT	p.F159F	GDPD2_uc010nkx.2_Silent_p.F159F|GDPD2_uc010nky.2_5'UTR|GDPD2_uc004dyh.3_Silent_p.F159F|GDPD2_uc011mpl.2_Silent_p.F80F|GDPD2_uc011mpm.2_Silent_p.F80F	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	159					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CAGCCCCATTCCTTCATATTG	0.607000														0			7		0	0	0.003080	0	0
TBX6	6911	broad.mit.edu	37	16	30102231	30102231	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:30102231G>A	uc010veh.2	-	2	261	c.201C>T	c.(199-201)ccC>ccT	p.P67P	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Silent_p.P67P	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	67					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGGGCAGAAGGGGCAGAGGTG	0.667000														18			11		0	0	0.000978	0	0
NOS1	4842	broad.mit.edu	37	12	117768218	117768218	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:117768218C>T	uc001twn.2	-	1	1368	c.657G>A	c.(655-657)ggG>ggA	p.G219G	NOS1_uc001twm.2_Silent_p.G219G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	219	PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCCTCTGCTCCCACTGGTGA	0.567000														95			45		0	0	0.003610	0	0
ADCY7	113	broad.mit.edu	37	16	50339720	50339721	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:50339720_50339721CC>TT	uc002egd.1	+	12	1980_1981	c.1712_1713CC>TT	c.(1711-1713)acc>aTT	p.T571I	ADCY7_uc002egc.2_Missense_Mutation_p.T571I	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	571					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GACTTCTACACCTTTGGGTCCA	0.668000														23			14		0	0	0.004672	0	0
KRT71	112802	broad.mit.edu	37	12	52940286	52940286	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52940286G>A	uc001sao.3	-	6	1179	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	370	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCAGGTTGGAAGCCTAAGG	0.597000														16			7		0	0	0.001984	0	0
DSC3	1825	broad.mit.edu	37	18	28598186	28598187	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:28598186_28598187CC>TT	uc002kwj.4	-	8	1268_1269	c.1113_1114GG>AA	c.(1111-1116)gtggaa>gtAAaa	p.E372K	DSC3_uc002kwi.4_Missense_Mutation_p.E372K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	372	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CGTAAGATTTCCACATTGAATG	0.272000														30			10		0	0	0.004672	0	0
ALG1L2	644974	broad.mit.edu	37	3	129810120	129810120	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:129810120G>A	uc011bld.2	+	1	223	c.37G>A	c.(37-39)Gac>Aac	p.D13N	ALG1L2_uc010hth.3_Non-coding_Transcript	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like 2 (ALG1L2), mRNA.	13					biosynthetic process		transferase activity, transferring glycosyl groups										GACCGTCTACGACAAGCCGGC	0.552000														22			11		0	0	0.000978	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661516	35661516	+	Missense_Mutation	SNP	C	T	T	rs28522155		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:35661516C>T	uc003anl.3	+	4	1309	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	HMGXB4_uc011amh.1_Missense_Mutation_p.P270S|HMGXB4_uc003ank.3_Missense_Mutation_p.P270S	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	379					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGCCACTTCCTGGCCTCCA	0.498000														40			15		0	0	0.003163	0	0
ACOX3	8310	broad.mit.edu	37	4	8401291	8401291	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:8401291G>A	uc010idk.3	-	7	1010	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ACOX3_uc003glc.4_Missense_Mutation_p.P289S|ACOX3_uc003gld.4_Missense_Mutation_p.P289S	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	289					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						ACCTTAAAGGGGCTGACATAG	0.622000														105			19		0	0	0.008871	0	0
ARSK	153642	broad.mit.edu	37	5	94936653	94936653	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:94936653C>T	uc003kld.3	+	6	1357	c.1199C>T	c.(1198-1200)cCa>cTa	p.P400L	ARSK_uc010jbg.3_Missense_Mutation_p.P241L|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	400						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AACCTGCATCCACCCTGGATT	0.418000														118			76		0	0	0.003610	0	0
C1orf9	51430	broad.mit.edu	37	1	172578958	172578958	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:172578958G>C	uc001giq.4	+	23	3640	c.3324G>C	c.(3322-3324)aaG>aaC	p.K1108N	C1orf9_uc009wwd.3_Missense_Mutation_p.K1064N|C1orf9_uc010pmn.2_Missense_Mutation_p.K737N|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	1108					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		TGTTGTAGAAGAAGCGCTGCA	0.398000														39			12		0	0	0.001855	0	0
TMEM225	338661	broad.mit.edu	37	11	123753985	123753985	+	Missense_Mutation	SNP	C	T	T	rs77654932	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:123753985C>T	uc001pzi.3	-	3	746	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	180						integral to membrane		p.E180K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCTTACATTCGTTGTCAGAT	0.443000														4			33		0	0	0.003755	0	0
FADS6	283985	broad.mit.edu	37	17	72875693	72875693	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:72875693G>A	uc002jmd.1	-	4	759	c.747C>T	c.(745-747)ttC>ttT	p.F249F	FADS6_uc010wrn.1_Silent_p.F103F	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	255					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTCCCGGGAGAACATGGGCA	0.652000														18			8		0	0	0.006214	0	0
SGMS2	166929	broad.mit.edu	37	4	108817049	108817049	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:108817049C>T	uc003hyo.3	+	1	979	c.340C>T	c.(340-342)Cca>Tca	p.P114S	SGMS2_uc003hyl.4_Missense_Mutation_p.P114S|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.P114S	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	114					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CCCTCCACTCCCAGACAAGTT	0.423000														47			15		0	0	0.004007	0	0
TRMT1	55621	broad.mit.edu	37	19	13220601	13220601	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:13220601G>A	uc002mwj.2	-	8	1408	c.1158C>T	c.(1156-1158)caC>caT	p.H386H	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.H357H|TRMT1_uc002mwl.3_Silent_p.H386H|TRMT1_uc010xmz.1_Silent_p.H172H	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	386							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GTTGCCCACAGTGTTCACACT	0.627000														30			15		0	0	0.004990	0	0
KCNV1	27012	broad.mit.edu	37	8	110980497	110980497	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:110980497C>T	uc003ynr.4	-	2	2127	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	KCNV1_uc010mcw.3_Silent_p.K441K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	441						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CAGCTGCTTCCTTGAGTTTCA	0.428000														65			37		0	0	0.004289	0	0
FAM180A	389558	broad.mit.edu	37	7	135418972	135418972	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:135418972G>A	uc003vtd.3	-	2	539	c.273C>T	c.(271-273)acC>acT	p.T91T	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Silent_p.T91T	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	91						extracellular region		p.T91T(2)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGTTGCAGACGGTGCGGAAGT	0.587000														70			33		0	0	0.003755	0	0
P2RX7	5027	broad.mit.edu	37	12	121605371	121605372	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:121605371_121605372CC>TT	uc001tzm.3	+	7	977_978	c.825_826CC>TT	c.(823-828)ttccgt>ttTTgt	p.R276C	P2RX7_uc001tzn.3_Missense_Mutation_p.R186C|P2RX7_uc001tzo.3_Intron|P2RX7_uc001tzp.3_Intron|P2RX7_uc001tzq.3_Missense_Mutation_p.R106C	NM_002562	NP_002553	A8K2Z0	A8K2Z0_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 7 (P2RX7), transcript variant 1, mRNA.	276						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AATACAGTTTCCGTCGCCTTGA	0.530000														260			88		0	0	0.004672	0	0
ZEB1	6935	broad.mit.edu	37	10	31791374	31791374	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:31791374C>T	uc001ivs.4	+	3	481	c.418C>T	c.(418-420)Cct>Tct	p.P140S	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.P141S|ZEB1_uc010qeh.2_Missense_Mutation_p.P73S|ZEB1_uc001ivv.4_Missense_Mutation_p.P120S|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.P123S|ZEB1_uc009xlp.3_Missense_Mutation_p.P124S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	140					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCATTTTTCCTGAGGCACC	0.423000														53			36		0	0	0.004289	0	0
DNAL1	83544	broad.mit.edu	37	14	74125555	74125555	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:74125555G>A	uc001xoq.4	+	2	213	c.48G>A	c.(46-48)gaG>gaA	p.E16E	DNAL1_uc010aru.3_5'UTR|DNAL1_uc010arv.3_Intron	NM_031427	NP_001188295	Q4LDG9	DNAL1_HUMAN	Homo sapiens dynein, axonemal, light chain 1 (DNAL1), transcript variant 1, mRNA.	16										kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CATAGGAAGAGAAAACTGGCC	0.393000														69			44		0	0	0.008740	0	0
OR8H3	390152	broad.mit.edu	37	11	55890640	55890640	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55890640G>A	uc001nii.1	+	0	792	c.792G>A	c.(790-792)aaG>aaA	p.K264K		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AGCCAAGAAAGTCTTATTCCT	0.388000														200			22		0	0	0.001523	0	0
ZNF99	7652	broad.mit.edu	37	19	22951111	22951111	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:22951111G>A	uc021urt.1	-	2	377	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATACCTGGGGGTTTAGTTA	0.433000														11			9		0	0	0.006214	0	0
GJA5	2702	broad.mit.edu	37	1	147230828	147230828	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:147230828G>A	uc021ovl.1	-	0	519	c.519C>T	c.(517-519)ttC>ttT	p.F173F	GJA5_uc001eps.1_Silent_p.F173F|GJA5_uc001ept.1_Silent_p.F173F	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	173					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TTCCGTAGATGAAGTACTGGC	0.567000														28			16		0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141092073	141092073	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	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)				30			16		0	0	0.006122	0	0
EPHB1	2047	broad.mit.edu	37	3	134670723	134670723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:134670723G>A	uc003eqt.3	+	2	1009	c.634G>A	c.(634-636)Ggg>Agg	p.G212R	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	212	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GACTATGACAGGGGCAGAGAG	0.507000														151			66		0	0	0.003610	0	0
SPNS3	201305	broad.mit.edu	37	17	4352556	4352556	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:4352556G>A	uc002fxt.3	+	6	841	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SPNS3_uc002fxu.3_Missense_Mutation_p.G139E	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	266					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TCGACCCTCGGAGTGACCGCC	0.657000														41			25		0	0	0.001786	0	0
CLPSL2	389383	broad.mit.edu	37	6	35747255	35747255	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:35747255C>T	uc003olc.1	+	3	414	c.410C>T	c.(409-411)cCt>cTt	p.P137L	CLPSL2_uc010jvz.1_3'UTR|CLPSL1_uc003old.4_5'Flank			Q6UWE3	CF126_HUMAN	Homo sapiens chromosome 6 open reading frame 126 (C6orf126), mRNA.	0					digestion|lipid catabolic process	extracellular region	enzyme activator activity										TCACTGCTCCCTTGGGGCCAT	0.547000														6			3		0	0	0.004672	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68044831	68044831	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:68044831T>C	uc001xjl.1	+	18	2808	c.2666T>C	c.(2665-2667)gTt>gCt	p.V889A	PLEKHH1_uc010tsw.1_Missense_Mutation_p.V457A|PLEKHH1_uc001xjn.1_Missense_Mutation_p.V404A|PLEKHH1_uc010tsx.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	889	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTCTGCCTGGTTCACCCCGAG	0.617000														35			22		0	0	0.002299	0	0
SPPL2A	84888	broad.mit.edu	37	15	51040393	51040393	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:51040393G>A	uc001zyv.3	-	3	547	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	123	PA.					integral to membrane	aspartic-type endopeptidase activity	p.P122A(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTACCTGAGGGAGGAAACTAA	0.249000														6			5		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256034	140256034	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140256034G>A	uc003lic.2	+	0	1104	c.977G>A	c.(976-978)gGg>gAg	p.G326E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.G326E	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	341	Cadherin 3.				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)			ATTGATAAAGGGATTCCTTCC	0.418000														65			48		0	0	0.003610	0	0
PAPSS2	9060	broad.mit.edu	37	10	89475534	89475534	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:89475534C>T	uc001kex.3	+	6	1062	c.799C>T	c.(799-801)Ccc>Tcc	p.P267S	PAPSS2_uc001kew.3_Missense_Mutation_p.P267S|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity	p.P267P(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CTGGGCCACTCCCCTCAAAGG	0.443000														35			25		0	0	0.005443	0	0
RAB27B	5874	broad.mit.edu	37	18	52556515	52556515	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:52556515C>T	uc002lfr.3	+	5	771	c.528C>T	c.(526-528)acC>acT	p.T176T		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	176					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTGTAGAAACCCTTTTGGACT	0.403000														17			13		0	0	0.004007	0	0
ABCC8	6833	broad.mit.edu	37	11	17418475	17418475	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:17418475G>A	uc001mnc.3	-	32	4233	c.4107C>T	c.(4105-4107)gcC>gcT	p.A1369A		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1369	ABC transporter 2.		A -> S (in dbSNP:rs757110).		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)	TCTGTCCAGGGGCGATGAGGG	0.617000														112			95		0	0	0.003610	0	0
ABCG4	64137	broad.mit.edu	37	11	119027719	119027719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:119027719C>T	uc001pvs.3	+	8	1399	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S	ABCG4_uc009zar.3_Missense_Mutation_p.P355S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTCCTTGTCCTCCGGTGAG	0.617000														6			51		0	0	0.003610	0	0
KRT37	8688	broad.mit.edu	37	17	39580567	39580567	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:39580567G>A	uc002hwp.1	-	0	256	c.209C>T	c.(208-210)cCc>cTc	p.P70L		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	70	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ACTGGTTGGGGGCAGACAGAG	0.622000														33			12		0	0	0.003163	0	0
CCNT2	905	broad.mit.edu	37	2	135676478	135676478	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:135676478G>A	uc002tuc.2	+	0	87	c.54G>A	c.(52-54)ctG>ctA	p.L18L	LOC100129961_uc010zbe.2_5'Flank|CCNT2_uc010zbf.2_5'UTR|CCNT2_uc002tub.2_Silent_p.L18L|CCNT2_uc002tud.2_5'UTR	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.	18					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGGAACAGCTGGAGAACACGC	0.647000														14			5		0	0	0.000602	0	0
HMP19	51617	broad.mit.edu	37	5	173531337	173531337	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:173531337A>T	uc003mcx.3	+	3	465	c.320A>T	c.(319-321)tAt>tTt	p.Y107F	HMP19_uc011dfh.2_Missense_Mutation_p.I11L	NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	107					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATTCGTCTATAAGGTAAGA	0.478000														46			13		0	0	0.004007	0	0
PCDH17	27253	broad.mit.edu	37	13	58207511	58207511	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:58207511A>G	uc001vhq.1	+	0	1723	c.831A>G	c.(829-831)gaA>gaG	p.E277E	PCDH17_uc010aec.1_Silent_p.E277E	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	277	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAATGGTGAAGTGCTCTACT	0.592000														31			20		0	0	0.007413	0	0
TOX2	84969	broad.mit.edu	37	20	42682973	42682973	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:42682973G>A	uc010ggo.3	+	4	726	c.686G>A	c.(685-687)gGa>gAa	p.G229E	TOX2_uc002xle.4_Missense_Mutation_p.G187E|TOX2_uc010ggp.3_Missense_Mutation_p.G187E|TOX2_uc002xlf.4_Missense_Mutation_p.G238E|TOX2_uc010zwk.2_Missense_Mutation_p.G107E	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGACCCAGGAAAAAAGGCC	0.537000														12			6		0	0	0.001168	0	0
SPATA18	132671	broad.mit.edu	37	4	52928431	52928431	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:52928431C>T	uc003gzl.3	+	3	633	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.R119W|SPATA18_uc003gzk.1_Missense_Mutation_p.R119W	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	119					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCCTCGGGATCGGGATATGCA	0.383000														132			53		0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676132	44676132	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:44676132C>T	uc010zxl.1	+	14	1972	c.1896C>T	c.(1894-1896)ctC>ctT	p.L632L	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.L609L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	632					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCTGGCCCTCATGTTCATCT	0.577000														98			48		0	0	0.003610	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751017	751017	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:751017C>T	uc003siu.2	-	1	259	c.126G>A	c.(124-126)aaG>aaA	p.K42K	PRKAR1B_uc021zyi.1_Silent_p.K42K|PRKAR1B_uc003siv.3_Silent_p.K42K|PRKAR1B_uc021zyj.1_Silent_p.K42K|PRKAR1B_uc021zyk.1_Silent_p.K42K|PRKAR1B_uc003siw.2_Silent_p.K42K	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	42	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGCGTTCGGGCTTGGAGATGC	0.637000														109			10		0	0	0.006214	0	0
UBR4	23352	broad.mit.edu	37	1	19454738	19454739	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:19454738_19454739GG>AA	uc001bbi.3	-	61	9081_9082	c.9077_9078CC>TT	c.(9076-9078)tcc>tTT	p.S3026F	UBR4_uc001bbk.1_Missense_Mutation_p.S673F	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3026					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAATAAGCTGGGAGAGCAGGTT	0.446000														103			43		0	0	0.004672	0	0
KCNA5	3741	broad.mit.edu	37	12	5154975	5154975	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:5154975G>A	uc001qni.3	+	0	1891	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	554						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.R554Q(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAGTCCAGCGGAAGGTCAGCG	0.637000														19			7		0	0	0.001984	0	0
FANCF	2188	broad.mit.edu	37	11	22646373	22646373	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:22646373G>A	uc001mql.1	-	0	1015	c.984C>T	c.(982-984)gcC>gcT	p.A328A		NM_022725	NP_073562	Q9NPI8	FANCF_HUMAN	Homo sapiens Fanconi anemia, complementation group F (FANCF), mRNA.	328					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						AGGTCTCCAGGGCAGTTAGAA	0.478000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			37		0	0	0.002852	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:2939042C>T	uc001ajz.3	+	0	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	264						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGCCCTGTTCGTGCCCCAGC	0.642000														68			19		0	0	0.001523	0	0
PTK2	5747	broad.mit.edu	37	8	141889609	141889609	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:141889609C>T	uc003yvu.3	-	3	633	c.323G>A	c.(322-324)aGg>aAg	p.R108K	PTK2_uc003yvr.3_Missense_Mutation_p.R7K|PTK2_uc003yvs.3_Missense_Mutation_p.R108K|PTK2_uc011ljr.2_Missense_Mutation_p.R108K|PTK2_uc003yvt.3_Missense_Mutation_p.R130K|PTK2_uc003yvv.3_Intron	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	108	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.R108C(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATACTTCTCCCTCACACTGGA	0.483000														243			86		0	0	0.003610	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563511	140563511	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140563511C>T	uc003liv.3	+	0	2532	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	459	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F459F(2)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.582000														112			61		0	0	0.003610	0	0
TET3	200424	broad.mit.edu	37	2	74317148	74317148	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:74317148C>T	uc002skb.4	+	4	2608	c.2608C>T	c.(2608-2610)Cgc>Tgc	p.R870C		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	870							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCGCAAGTTCCGCCTCGCAGG	0.597000														102			34		0	0	0.003271	0	0
ZNF793	390927	broad.mit.edu	37	19	38024235	38024235	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38024235G>A	uc010efm.3	+	6	610	c.168G>A	c.(166-168)gtG>gtA	p.V56V	ZNF793_uc010xts.2_Silent_p.V56V	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACCAGATGTGATCCTCAGAC	0.532000														81			37		0	0	0.004878	0	0
SLC7A9	11136	broad.mit.edu	37	19	33350862	33350862	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:33350862G>A	uc002ntv.4	-	7	875	c.758C>T	c.(757-759)cCt>cTt	p.P253L	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.P253L|SLC7A9_uc021usa.1_Missense_Mutation_p.P253L|SLC7A9_uc002ntw.4_Missense_Mutation_p.P44L|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	253					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AATGGCCAAAGGCAGGTTTCT	0.602000														26			9		0	0	0.001368	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103433413	103433413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:103433413C>T	uc001ymi.1	-	16	2673	c.2441G>A	c.(2440-2442)tGg>tAg	p.W814*	CDC42BPB_uc001ymj.1_5'Flank	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	814					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGAGCTTCCCAGTGGGCCAC	0.562000														21			22		0	0	0.003330	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156698722	156698722	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:156698722C>T	uc003ipc.3	+	3	392	c.225C>T	c.(223-225)ttC>ttT	p.F75F	GUCY1B3_uc011cio.2_Silent_p.F75F|GUCY1B3_uc011cip.2_Silent_p.F55F|GUCY1B3_uc003ipd.3_Silent_p.F3F|GUCY1B3_uc010iqf.3_Silent_p.F75F|GUCY1B3_uc010iqg.3_Silent_p.F3F|GUCY1B3_uc011ciq.2_Silent_p.F3F	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	75					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATGTTTTTCGTCTTTTGCC	0.353000														72			32		0	0	0.004878	0	0
GPR155	151556	broad.mit.edu	37	2	175333751	175333751	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:175333751G>A	uc002uit.3	-	5	1462	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	GPR155_uc002uiu.3_Silent_p.I357I|GPR155_uc002uiv.3_Silent_p.I357I|GPR155_uc010fqs.3_Silent_p.I357I	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	357					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AAACGTACATGATGGGAGCAG	0.393000														32			27		0	0	0.004656	0	0
TTF1	7270	broad.mit.edu	37	9	135277532	135277532	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:135277532G>A	uc004cbl.3	-	1	746	c.677C>T	c.(676-678)tCc>tTc	p.S226F	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	226					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCGGTTACTGGACTTTTTCTT	0.502000														7			30		0	0	0.008361	0	0
SZT2	23334	broad.mit.edu	37	1	43891737	43891737	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:43891737C>T	uc001cjk.2	+	20	3042	c.432C>T	c.(430-432)gtC>gtT	p.V144V	SZT2_uc009vws.1_Silent_p.V986V	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	986						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACACCTGCGTCCATGAGATCC	0.557000														35			10		0	0	0.000978	0	0
OPN4	94233	broad.mit.edu	37	10	88416026	88416026	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:88416026G>A	uc010qmk.1	+	1	486	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	OPN4_uc001kdp.3_Missense_Mutation_p.G87S|OPN4_uc001kdq.3_Missense_Mutation_p.G87S	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	87					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						GGGGATGCTGGGCAACCTGAC	0.612000														51			33		0	0	0.004878	0	0
JAG1	182	broad.mit.edu	37	20	10629213	10629213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:10629213G>A	uc002wnw.2	-	11	2069	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	JAG1_uc010gcd.1_Missense_Mutation_p.S76F	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	518	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GAGGTTTCCAGAGAAACCAGT	0.507000									Alagille Syndrome					59			16		0	0	0.008871	0	0
PEX6	5190	broad.mit.edu	37	6	42934388	42934388	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:42934388C>T	uc003otf.3	-	9	2062	c.1969G>A	c.(1969-1971)Ggt>Agt	p.G657S	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	657					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GTCAAGCCACCTGCCAAACTG	0.577000														170			31		0	0	0.001786	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255082	15255082	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:15255082C>T	uc001iob.3	-	7	2512	c.2505G>A	c.(2503-2505)acG>acA	p.T835T		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	835						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCGTCTGGTCGTCTCCTCCT	0.637000														42			37		0	0	0.004878	0	0
ZNF676	163223	broad.mit.edu	37	19	22363276	22363276	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:22363276G>A	uc002nqs.1	-	2	1561	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTCTCTTA	0.433000														23			21		0	0	0.003954	0	0
PSAT1	29968	broad.mit.edu	37	9	80921351	80921351	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:80921351G>A	uc004ala.3	+	4	587	c.519G>A	c.(517-519)ctG>ctA	p.L173L	PSAT1_uc004alb.3_Silent_p.L173L	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	173					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GAGCAGTACTGGTTTGTGACA	0.502000														36			256		0	0	0.003610	0	0
TRO	7216	broad.mit.edu	37	X	54957352	54957352	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:54957352G>A	uc004dtq.3	+	11	4302	c.4195G>A	c.(4195-4197)Gga>Aga	p.G1399R	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.G930R|TRO_uc004dtw.3_Missense_Mutation_p.G1002R|TRO_uc004dtx.3_Missense_Mutation_p.G782R	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1399	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTTCGGCGGTGGACCAAACAC	0.617000														3			29		0	0	0.008361	0	0
P2RX3	5024	broad.mit.edu	37	11	57137411	57137411	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57137411G>A	uc001nju.3	+	11	1319	c.1135G>A	c.(1135-1137)Gac>Aac	p.D379N		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	379					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTACCCCAGCGACCAGACCAC	0.577000														43			8		0	0	0.000978	0	0
SPDEF	25803	broad.mit.edu	37	6	34508834	34508834	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:34508834C>T	uc003ojq.2	-	2	995	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SPDEF_uc011dsq.2_Silent_p.S187S	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	187	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						ACTGCTCCTCCGACATGGCGC	0.652000														38			8		0	0	0.003080	0	0
C1orf172	126695	broad.mit.edu	37	1	27278866	27278866	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:27278866G>A	uc001bni.2	-	1	99	c.6C>T	c.(4-6)ccC>ccT	p.P2P	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	2	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAGGGCGGGGCATGGCTC	0.617000														65			22		0	0	0.004656	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959332	45959332	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:45959332G>A	uc002zfh.1	-	0	747	c.702C>T	c.(700-702)ctC>ctT	p.L234L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	234	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GGCGGCAGAGGAGGGACACGG	0.687000														19			21		0	0	0.002299	0	0
CHD6	84181	broad.mit.edu	37	20	40054786	40054786	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:40054786G>A	uc002xka.1	-	27	4254	c.4076C>T	c.(4075-4077)tCc>tTc	p.S1359F		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1359					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCATCACTGGAACTCTCCTA	0.453000														125			47		0	0	0.003610	0	0
SP100	6672	broad.mit.edu	37	2	231380341	231380341	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:231380341G>A	uc002vqt.3	+	24	2767	c.2626G>A	c.(2626-2628)Gat>Aat	p.D876N	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.	876					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)		aaatgaagaagatgaTGATAA	0.338000														6			9		0	0	0.004482	0	0
IL16	3603	broad.mit.edu	37	15	81600992	81600992	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:81600992C>T	uc021ssh.1	+	17	3953	c.3852C>T	c.(3850-3852)atC>atT	p.I1284I	IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.I1325I|IL16_uc002bgg.3_Silent_p.I1283I|IL16_uc002bgj.3_Silent_p.I777I|IL16_uc021ssi.1_Silent_p.I583I	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1284	PDZ 4.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGATGAAATCTTACAGCTGG	0.517000														34			24		0	0	0.005443	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207824	123207824	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:123207824G>A	uc003ieh.3	+	50	9211	c.9166G>A	c.(9166-9168)Ggg>Agg	p.G3056R	KIAA1109_uc003iel.1_Missense_Mutation_p.G991R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3056					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.G3056V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TACCATGTCAGGGAAATATAT	0.393000														42			31		0	0	0.003755	0	0
IL36B	27177	broad.mit.edu	37	2	113786623	113786623	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:113786623C>T	uc002tiq.1	-	3	258	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	IL36B_uc002tir.1_Missense_Mutation_p.E52K	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	52					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCACTGAATTCTGTGTCTCTA	0.428000														32			26		0	0	0.005443	0	0
NLRP12	91662	broad.mit.edu	37	19	54327292	54327292	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54327292C>T	uc002qcj.4	-	0	357	c.137G>A	c.(136-138)gGa>gAa	p.G46E	NLRP12_uc002qch.4_Missense_Mutation_p.G46E|NLRP12_uc002qci.4_Missense_Mutation_p.G46E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G46E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	46	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTCCATGCTTCCCCAGGGGAT	0.592000														79			17		0	0	0.004990	0	0
ARID1A	8289	broad.mit.edu	37	1	27088718	27088718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:27088718C>T	uc001bmv.1	+	6	2700	c.2327C>T	c.(2326-2328)cCt>cTt	p.P776L	ARID1A_uc001bmt.1_Missense_Mutation_p.P776L|ARID1A_uc001bmu.1_Missense_Mutation_p.P776L|ARID1A_uc001bmw.1_Missense_Mutation_p.P393L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	776				P -> L (in Ref. 1; AAG33967, 5; AAG17549 and 7; BAA23269).	androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGCGTCAGCCTTCCGGAGGA	0.572000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									66			28		0	0	0.005443	0	0
ATP9A	10079	broad.mit.edu	37	20	50226668	50226668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:50226668G>A	uc002xwg.1	-	23	2608	c.2608C>T	c.(2608-2610)Cct>Tct	p.P870S	ATP9A_uc010gih.1_Missense_Mutation_p.P734S|ATP9A_uc002xwf.1_Missense_Mutation_p.P42S	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	870					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGATAGAGAGGGACGGAGGCA	0.423000														74			21		0	0	0.003954	0	0
GPATCH1	55094	broad.mit.edu	37	19	33608800	33608800	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:33608800G>A	uc002nug.1	+	15	2580	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	GPATCH1_uc002nuh.1_Missense_Mutation_p.A133T	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	756						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTTATTCAGGGCCATCTTTGC	0.517000														287			31		0	0	0.002445	0	0
DNAH17	8632	broad.mit.edu	37	17	76503785	76503785	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:76503785C>T	uc010dhp.2	-	27	4464	c.4339G>A	c.(4339-4341)Gag>Aag	p.E1447K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCAGCGTCTCCACCAGCACC	0.592000														9			3		0	0	0.000248	0	0
ZNF555	148254	broad.mit.edu	37	19	2853905	2853905	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:2853905G>A	uc002lwo.3	+	3	1980	c.1842G>A	c.(1840-1842)caG>caA	p.Q614Q	ZNF555_uc002lwn.4_Silent_p.Q613Q	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		AGTCACACCAGGAGAGAGATC	0.393000														24			29		0	0	0.006320	0	0
DDHD1	80821	broad.mit.edu	37	14	53539314	53539314	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:53539314C>T	uc001xai.3	-	6	1733	c.1503_splice	c.e6+1	p.E501_splice	DDHD1_uc001xaj.3_Splice_Site_p.E508_splice|DDHD1_uc001xah.3_Splice_Site_p.E501_splice|DDHD1_uc001xag.3_Splice_Site_p.E83_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	501					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGACACTTACTTCATCTCTA	0.318000														21			13		0	0	0.001368	0	0
EPHA3	2042	broad.mit.edu	37	3	89468381	89468381	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:89468381C>T	uc003dqy.3	+	10	2140	c.1915C>T	c.(1915-1917)Cgc>Tgc	p.R639C	EPHA3_uc021xbf.1_Missense_Mutation_p.R639C	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	639	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTGCAGTGGTCGCTTAAAACT	0.393000										TSP Lung(6;0.00050)				76			24		0	0	0.006320	0	0
TP63	8626	broad.mit.edu	37	3	189455616	189455616	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:189455616C>T	uc003fry.2	+	1	239	c.150C>T	c.(148-150)ctC>ctT	p.L50L	TP63_uc003frx.2_Silent_p.L50L|TP63_uc003frz.2_Silent_p.L50L|TP63_uc010hzc.1_Silent_p.L50L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	50	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGAATTCCTCAGTCCAGAGG	0.398000										HNSCC(45;0.13)				42			16		0	0	0.004007	0	0
DNM3	26052	broad.mit.edu	37	1	172356454	172356454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:172356454C>T	uc001gie.3	+	18	2416	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	DNM3_uc001gif.3_Missense_Mutation_p.P743L|DNM3_uc001gih.1_Missense_Mutation_p.P103L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	753	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTGTCCACTCCGGCACCCCCT	0.592000														33			13		0	0	0.001855	0	0
SEC24C	9632	broad.mit.edu	37	10	75529739	75529739	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:75529739C>T	uc001juw.3	+	20	3008	c.2828C>T	c.(2827-2829)aCc>aTc	p.T943I	SEC24C_uc001jux.3_Missense_Mutation_p.T943I|SEC24C_uc010qko.2_Missense_Mutation_p.T824I|SEC24C_uc010qkp.2_Missense_Mutation_p.T191I|SEC24C_uc010qkq.2_Missense_Mutation_p.T191I|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	943					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTGACTGAGACCAATGTCTTC	0.512000														81			51		0	0	0.003610	0	0
MYO5B	4645	broad.mit.edu	37	18	47500984	47500984	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:47500984G>A	uc002leb.2	-	10	1345	c.1057_splice	c.e10-1	p.P353_splice	MYO5B_uc021ukb.1_Splice_Site_p.P352_splice	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	353	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TACATCCTGGGGCTGTGGGAG	0.587000														31			20		0	0	0.001882	0	0
EVC	2121	broad.mit.edu	37	4	5806507	5806507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:5806507C>T	uc003gil.1	+	16	2684	c.2500C>T	c.(2500-2502)Cct>Tct	p.P834S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	834					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTCAGCAACCCTTCGTCGGG	0.547000														140			25		0	0	0.007291	0	0
FMN2	56776	broad.mit.edu	37	1	240371666	240371666	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:240371666C>T	uc010pye.2	+	5	3791	c.3566C>T	c.(3565-3567)cCt>cTt	p.P1189L	FMN2_uc010pyd.2_Missense_Mutation_p.P1185L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1185	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTGGGAATACCTCCTCCGCCC	0.682000														1			10		0	0	0.001855	0	0
ABCB11	8647	broad.mit.edu	37	2	169825893	169825893	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:169825893C>T	uc002ueo.1	-	15	2104	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	ABCB11_uc010zda.1_Missense_Mutation_p.G102R|ABCB11_uc010zdb.1_Missense_Mutation_p.G136R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	660	Interaction with HAX1 (By similarity).				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GCTTGATTTCCCTGGCTTTGC	0.383000														13			4		0	0	0.000602	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672558	44672558	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:44672558C>T	uc010zxl.1	+	10	1525	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.V460V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	483					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGAGGGGGTCGTCCTGCGGG	0.557000														85			31		0	0	0.003271	0	0
KLC4	89953	broad.mit.edu	37	6	43041663	43041663	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43041663C>T	uc003otw.1	+	14	2142	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	PTK7_uc003oub.1_5'Flank|PTK7_uc003ouc.1_5'Flank|PTK7_uc003oud.1_5'Flank|PTK7_uc003oue.1_5'Flank|PTK7_uc003ouf.1_5'Flank|PTK7_uc003oug.1_5'Flank|PTK7_uc011dve.1_5'Flank|KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otv.1_Missense_Mutation_p.S590F|KLC4_uc011dvd.1_Missense_Mutation_p.S513F|KLC4_uc003otx.1_Missense_Mutation_p.S590F|KLC4_uc003oty.1_Missense_Mutation_p.S590F|KLC4_uc003otz.1_Missense_Mutation_p.S590F|PTK7_uc003oua.3_5'Flank	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	590						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CGAGCAGCCTCCTTGAACTAT	0.527000														120			22		0	0	0.004656	0	0
C12orf40	283461	broad.mit.edu	37	12	40041606	40041606	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:40041606G>A	uc001rmc.3	+	5	564	c.397G>A	c.(397-399)Gac>Aac	p.D133N	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	133										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ACAAGGCATGGACTCATATAG	0.328000														33			10		0	0	0.001368	0	0
GSX2	170825	broad.mit.edu	37	4	54967870	54967870	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:54967870G>A	uc010igp.1	+	1	960	c.696G>A	c.(694-696)agG>agA	p.R232R	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	232						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GACTCCGGAGGATTGAAATCG	0.532000														260			29		0	0	0.008361	0	0
MUC7	4589	broad.mit.edu	37	4	71347507	71347507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:71347507C>T	uc011cat.2	+	3	1334	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	MUC7_uc011cau.2_Missense_Mutation_p.S349L|MUC7_uc003hfj.3_Missense_Mutation_p.S349L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	349						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CAACCAACTTCAGCTCCTGGC	0.378000														42			31		0	0	0.001786	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66110660	66110660	+	RNA	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:66110660T>C	uc002jgq.3	+	3		c.751T>C								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TACGGAGGGGTTGCCAGGTAA	0.393000														7			3		0	0	0.004672	0	0
PRDM1	639	broad.mit.edu	37	6	106552934	106552934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:106552934C>T	uc003prd.2	+	4	1133	c.899C>T	c.(898-900)cCc>cTc	p.P300L	PRDM1_uc003pre.3_Missense_Mutation_p.P166L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	300					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GTCGTTTACCCCATCCGGGCC	0.552000			"""D, N, Mis, F, S"""		DLBCL									63			44		0	0	0.008740	0	0
ITLN1	55600	broad.mit.edu	37	1	160850994	160850994	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:160850994C>T	uc001fxc.3	-	4	630	c.514G>A	c.(514-516)Gac>Aac	p.D172N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	172	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	p.T171T(1)|p.T171K(1)		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)			AAGCCAGTGTCCGTGCGGTAC	0.562000														45			84		0	0	0.003610	0	0
CASD1	64921	broad.mit.edu	37	7	94163044	94163044	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:94163044G>A	uc003uni.4	+	6	785	c.558G>A	c.(556-558)atG>atA	p.M186I	CASD1_uc003unh.2_Missense_Mutation_p.M186I|CASD1_uc003unj.4_Missense_Mutation_p.M186I	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	186						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AATATAAAATGAACATCACCT	0.328000														37			19		0	0	0.007413	0	0
OR2A5	393046	broad.mit.edu	37	7	143748222	143748222	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:143748222C>T	uc011ktw.2	+	0	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCTGCTCCTCCCACCTTTGC	0.622000														46			32		0	0	0.008361	0	0
COL17A1	1308	broad.mit.edu	37	10	105798213	105798213	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:105798213G>A	uc001kxr.3	-	44	3190	c.3021C>T	c.(3019-3021)atC>atT	p.I1007I		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1007	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)		CAGAGCTGCTGATAGAGCCCG	0.597000														59			106		0	0	0.003610	0	0
CXorf21	80231	broad.mit.edu	37	X	30578040	30578040	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:30578040G>A	uc022bui.1	-	0	433	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	CXorf21_uc004dcg.2_Missense_Mutation_p.P145S	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	145										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CTCTCAGAGGGAAAATCTGTT	0.433000														4			22		0	0	0.002299	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149001562	149001562	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149001562C>T	uc003lra.1	+	8	1336	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	424	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGTGCACATTCGTGACCCTCC	0.587000														19			15		0	0	0.002450	0	0
RLTPR	146206	broad.mit.edu	37	16	67685394	67685394	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:67685394G>A	uc002etn.3	+	23	2524	c.2404G>A	c.(2404-2406)Gag>Aag	p.E802K	RLTPR_uc010cel.1_Missense_Mutation_p.E795K|RLTPR_uc010vjr.2_Missense_Mutation_p.E766K|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	802										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACAGGTGGGCGAGGTCTGCCG	0.562000														8			4		0	0	0.000248	0	0
CNOT6L	246175	broad.mit.edu	37	4	78669520	78669520	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:78669520G>A	uc011ccd.2	-	5	640	c.509C>T	c.(508-510)cCt>cTt	p.P170L	CNOT6L_uc003hks.3_Missense_Mutation_p.P170L|CNOT6L_uc003hkt.1_Missense_Mutation_p.P13L|CNOT6L_uc011cce.1_Missense_Mutation_p.P170L	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	170					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGGCCTCGGAGGAAGCTGCTC	0.313000														48			32		0	0	0.005524	0	0
FREM2	341640	broad.mit.edu	37	13	39425898	39425898	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:39425898G>C	uc001uwv.3	+	10	7127	c.6818G>C	c.(6817-6819)aGa>aCa	p.R2273T	FREM2_uc001uww.3_Missense_Mutation_p.R359T	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2273	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTTATAAGAATTCCAGTG	0.443000														21			28		0	0	0.007291	0	0
CAPN11	11131	broad.mit.edu	37	6	44149035	44149035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:44149035G>A	uc003owt.1	+	18	1954	c.1916G>A	c.(1915-1917)tGg>tAg	p.W639*	CAPN11_uc011dvn.2_Nonsense_Mutation_p.W293*	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	639	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAGATCCTGTGGAAAAAACTC	0.512000														70			17		0	0	0.001882	0	0
DCAF4	26094	broad.mit.edu	37	14	73420935	73420935	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:73420935C>T	uc001xng.3	+	9	1092	c.872C>T	c.(871-873)tCc>tTc	p.S291F	DCAF4_uc010ttr.2_Missense_Mutation_p.S270F|DCAF4_uc001xnj.3_Missense_Mutation_p.S292F|DCAF4_uc001xnh.3_Missense_Mutation_p.S191F|DCAF4_uc010tts.2_Missense_Mutation_p.S231F|DCAF4_uc010ttt.2_Missense_Mutation_p.S77F|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Missense_Mutation_p.S291F	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	291						CUL4 RING ubiquitin ligase complex		p.S291T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						TGTGCCTGGTCCCTGAATATC	0.547000														102			68		0	0	0.003610	0	0
INF2	64423	broad.mit.edu	37	14	105174858	105174858	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:105174858C>T	uc001ypb.2	+	8	1964	c.1821C>T	c.(1819-1821)tcC>tcT	p.S607S	INF2_uc001ypc.2_Silent_p.S607S|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	607	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GACTATTCTCCTTCCCTGCAG	0.687000											OREG0022959	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			14		0	0	0.003163	0	0
ATP8A2	51761	broad.mit.edu	37	13	26151272	26151272	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:26151272G>A	uc001uqk.3	+	19	1920	c.1778G>A	c.(1777-1779)gGg>gAg	p.G593E	ATP8A2_uc010tdi.2_Missense_Mutation_p.G553E|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.G103E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	553					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G593V(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TACTGTAAAGGGGCTGTAAGT	0.443000														76			44		0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7585215	7585215	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7585215G>C	uc003mxp.1	+	23	7999	c.7720G>C	c.(7720-7722)Ggc>Cgc	p.G2574R	DSP_uc003mxq.1_Missense_Mutation_p.G1975R|DSP_uc021yle.1_Missense_Mutation_p.G2131R	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2574	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGCAGCATGGGCAGTGGTGT	0.483000														135			20		0	0	0.001523	0	0
SLC22A25	387601	broad.mit.edu	37	11	62951205	62951205	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62951205C>T	uc001nwr.1	-	4	915	c.915G>A	c.(913-915)agG>agA	p.R305R	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.R305R	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	305					transmembrane transport	integral to membrane		p.R305K(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCATTCCATTCCTGTGTGCAG	0.463000														83			72		0	0	0.003610	0	0
TCTN1	79600	broad.mit.edu	37	12	111085590	111085590	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:111085590A>G	uc001trn.4	+	13	1828	c.1672A>G	c.(1672-1674)Act>Gct	p.T558A	TCTN1_uc009zvs.3_Missense_Mutation_p.T553A|TCTN1_uc001trm.3_Missense_Mutation_p.T449A|TCTN1_uc001trp.4_Missense_Mutation_p.T539A|TCTN1_uc001trj.2_Missense_Mutation_p.T497A|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	553					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTTATTTCCACTGCGGTTAC	0.498000														46			20		0	0	0.008871	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210437	28210437	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:28210437C>G	uc002ymf.3	-	8	2820	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	789	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATGTCTTGCTCTAAGGTGGAC	0.483000														11			18		0	0	0.006122	0	0
PDP2	57546	broad.mit.edu	37	16	66918222	66918222	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:66918222C>T	uc021tjw.1	+	0	35	c.35C>T	c.(34-36)tCt>tTt	p.S12F	PDP2_uc002eqk.2_Missense_Mutation_p.S12F	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	12					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		ATCTTAAATTCTACAAGGAAC	0.373000														191			42		0	0	0.002522	0	0
ROM1	6094	broad.mit.edu	37	11	62382274	62382274	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62382274G>A	uc001ntv.3	+	2	1560	c.1019G>A	c.(1018-1020)gGa>gAa	p.G340E	EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	340					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GCCCCACCAGGAGAAGCACCT	0.572000														20			12		0	0	0.003163	0	0
BPIFC	254240	broad.mit.edu	37	22	32853350	32853350	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:32853350G>A	uc003amn.2	-	0	24	c.24C>T	c.(22-24)gtC>gtT	p.V8V	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR|BPIFC_uc003amo.4_Silent_p.V8V	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	8						extracellular region	lipopolysaccharide binding|phospholipid binding										ATCCCCAGAGGACTGGGATTG	0.403000											OREG0003513	type=REGULATORY REGION|Gene=BPIL2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		38			25		0	0	0.004656	0	0
ANK1	286	broad.mit.edu	37	8	41577322	41577322	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:41577322G>A	uc003xok.3	-	9	1048	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R322W|ANK1_uc003xoj.3_Missense_Mutation_p.R322W|ANK1_uc003xol.3_Missense_Mutation_p.R322W|ANK1_uc003xom.3_Missense_Mutation_p.R355W	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	322	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACAGGAGCCGGACACAGTCG	0.572000														97			37		0	0	0.006230	0	0
EGFR	1956	broad.mit.edu	37	7	55229314	55229314	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:55229314C>T	uc003tqk.3	+	12	1867	c.1621C>T	c.(1621-1623)Ctt>Ttt	p.L541F	EGFR_uc003tqi.3_Missense_Mutation_p.L541F|EGFR_uc003tqj.3_Missense_Mutation_p.L541F|EGFR_uc022adm.1_Missense_Mutation_p.L541F|EGFR_uc010kzg.2_Missense_Mutation_p.L496F|EGFR_uc022adn.1_Missense_Mutation_p.L496F|EGFR_uc011kco.2_Missense_Mutation_p.L488F|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	541					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTGCAACCTTCTGGAGGG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				119			41		0	0	0.003610	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074719	9074719	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:9074719G>A	uc001mhi.2	-	11	1449	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	458						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGCAGTGCAGGGACACACGGG	0.552000														22			11		0	0	0.000978	0	0
SBSPON	157869	broad.mit.edu	37	8	73993429	73993430	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:73993429_73993430CC>TT	uc003xzf.3	-	1	438_439	c.233_234GG>AA	c.(232-234)ggg>gAA	p.G78E		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	78	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										GGCTCCATTCCCCCACGAAGCA	0.629000														65			9		0	0	0.004672	0	0
PAXIP1	22976	broad.mit.edu	37	7	154747269	154747269	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:154747269G>A	uc022aqg.1	-	14	2665	c.2622C>T	c.(2620-2622)ttC>ttT	p.F874F	PAXIP1_uc022aqf.1_Silent_p.F874F|PAXIP1_uc022aqh.1_Silent_p.F840F|PAXIP1_uc022aqi.1_Silent_p.F838F	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	874	BRCT 5.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGACAGGCTCGAATCCAGTGA	0.363000														27			11		0	0	0.001855	0	0
SPATA22	84690	broad.mit.edu	37	17	3349846	3349846	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:3349846C>T	uc002fvm.3	-	6	960	c.722G>A	c.(721-723)aGa>aAa	p.R241K	SPATA22_uc010vrg.2_Missense_Mutation_p.R225K|SPATA22_uc010vrf.2_Missense_Mutation_p.R241K|SPATA22_uc002fvo.3_Missense_Mutation_p.R241K|SPATA22_uc002fvn.3_Missense_Mutation_p.R241K|SPATA22_uc002fvp.3_Missense_Mutation_p.R241K|SPATA22_uc010ckf.3_Missense_Mutation_p.R198K	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	241										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAATAATTCTTAAAGAACT	0.269000														12			7		0	0	0.001984	0	0
TSC2	7249	broad.mit.edu	37	16	2131601	2131601	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2131601A>G	uc002con.3	+	30	3722	c.3616A>G	c.(3616-3618)Acc>Gcc	p.T1206A	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.T1206A|TSC2_uc002coo.3_Missense_Mutation_p.T1162A|TSC2_uc010uvv.2_Missense_Mutation_p.T1126A|TSC2_uc010uvw.2_Missense_Mutation_p.T1114A|TSC2_uc002cop.3_Missense_Mutation_p.T962A|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1206					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCAGGGAACACCAGCTGGCT	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					44			25		0	0	0.003954	0	0
CD38	952	broad.mit.edu	37	4	15835868	15835868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:15835868G>A	uc003gol.1	+	3	635	c.528G>A	c.(526-528)tgG>tgA	p.W176*	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	176					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity	p.D175G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCCCAGACTGGAGAAAGGACT	0.408000														109			21		0	0	0.002780	0	0
DSC1	1823	broad.mit.edu	37	18	28719835	28719835	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:28719835A>C	uc002kwn.3	-	10	1801	c.1539T>G	c.(1537-1539)gaT>gaG	p.D513E	DSC1_uc002kwm.3_Missense_Mutation_p.D513E	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	513	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGTTATCTTCATCCCCTAACT	0.299000														23			12		0	0	0.002450	0	0
PXDN	7837	broad.mit.edu	37	2	1653160	1653160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:1653160C>T	uc002qxa.3	-	16	2456	c.2392G>A	c.(2392-2394)Gtg>Atg	p.V798M		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	798					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGGTGGACACCAGGCGCGGC	0.637000														52			17		0	0	0.004990	0	0
OC90	729330	broad.mit.edu	37	8	133048632	133048632	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:133048632G>C	uc003ytg.2	-	7	665	c.665C>G	c.(664-666)aCt>aGt	p.T222S	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	238					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.E222E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CTTGGAGAGAGTGATCAGTCT	0.443000														142			15		0	0	0.007413	0	0
HSD17B13	345275	broad.mit.edu	37	4	88235068	88235068	+	Missense_Mutation	SNP	G	A	A	rs142648167	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:88235068G>A	uc003hqo.2	-	4	665	c.602C>T	c.(601-603)tCa>tTa	p.S201L	HSD17B13_uc010ikk.2_Missense_Mutation_p.S165L	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	201						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		CTGAAGTTCTGATGTCAGACC	0.433000														15			13		0	0	0.001855	0	0
MX2	4600	broad.mit.edu	37	21	42778893	42778893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:42778893G>A	uc002yzf.1	+	12	1977	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	MX2_uc002yzg.1_Missense_Mutation_p.E348K|MX2_uc010gop.1_Missense_Mutation_p.E107K	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	625	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTCCTTTACTGAAATAGGCAT	0.488000														23			17		0	0	0.007413	0	0
HRNR	388697	broad.mit.edu	37	1	152188255	152188255	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:152188255G>A	uc001ezt.1	-	2	5926	c.5850C>T	c.(5848-5850)agC>agT	p.S1950S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1950					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCGGCCACGGCTAGGGCTAG	0.607000														393			99		0	0	0.003610	0	0
UNK	85451	broad.mit.edu	37	17	73805988	73805988	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:73805988C>T	uc002jpm.3	+	2	480	c.480C>T	c.(478-480)taC>taT	p.Y160Y	UNK_uc021udd.1_Silent_p.Y84Y	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	84							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCAATTACAGCCCTGACG	0.642000														24			40		0	0	0.007835	0	0
PLCL1	5334	broad.mit.edu	37	2	198949641	198949641	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:198949641C>T	uc010fsp.3	+	1	1798	c.1400C>T	c.(1399-1401)tCc>tTc	p.S467F	PLCL1_uc002uuv.4_Missense_Mutation_p.S388F	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	467	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ACCCATGTTTCCTTTCGAAGT	0.408000														12			9		0	0	0.004482	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43937379	43937379	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:43937379T>G	uc010yny.2	+	12	2207	c.2124T>G	c.(2122-2124)ggT>ggG	p.G708G	PLEKHH2_uc002rte.3_Silent_p.G708G|PLEKHH2_uc002rtf.3_Silent_p.G707G	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	708	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding	p.S707F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAAAATCTGGTTATTTATTAA	0.353000														249			130		0	0	0.003610	0	0
IL31	386653	broad.mit.edu	37	12	122658709	122658709	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:122658709T>G	uc001ubv.3	-	0	38	c.11A>C	c.(10-12)cAc>cCc	p.H4P	LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.	4						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATACCTGAGTGAGAGGCCAT	0.577000														32			10		0	0	0.001855	0	0
PLAA	9373	broad.mit.edu	37	9	26920318	26920318	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:26920318A>C	uc003zqd.3	-	7	1529	c.1104T>G	c.(1102-1104)agT>agG	p.S368R	PLAA_uc003zqe.2_Missense_Mutation_p.S368R	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	368	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CTTCACTAACACTCCACTGAT	0.383000														31			18		0	0	0.008871	0	0
SLFN13	146857	broad.mit.edu	37	17	33772396	33772396	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:33772396C>T	uc002hjk.1	-	0	634	c.304G>A	c.(304-306)Gga>Aga	p.G102R	SLFN13_uc010wch.1_Missense_Mutation_p.G102R|SLFN13_uc002hjl.2_Missense_Mutation_p.G102R|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Intron	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	102						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAACACCTTCCGTGTTGCTTA	0.388000														27			21		0	0	0.001882	0	0
OR10J1	26476	broad.mit.edu	37	1	159409836	159409836	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159409836C>T	uc010piv.2	+	0	325	c.288C>T	c.(286-288)ctC>ctT	p.L96L	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	96					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.L96I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTCCAGCCTCGTAGGTATGA	0.468000														27			50		0	0	0.003610	0	0
ATP5A1	498	broad.mit.edu	37	18	43667373	43667373	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:43667373G>A	uc002lbr.1	-	6	975	c.885C>T	c.(883-885)tcC>tcT	p.S295S	ATP5A1_uc010dnl.1_Silent_p.S245S|ATP5A1_uc002lbs.1_Silent_p.S245S|ATP5A1_uc002lbt.1_Silent_p.S295S	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	295					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						ACTCTCCCATGGAACAGCCAG	0.418000														19			28		0	0	0.002445	0	0
NYAP2	57624	broad.mit.edu	37	2	226446676	226446676	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:226446676C>T	uc002voe.2	+	3	718	c.543C>T	c.(541-543)ccC>ccT	p.P181P	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_5'UTR	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	181																	AACCAAGACCCCACAGCGATG	0.398000														61			42		0	0	0.003610	0	0
CD8B	926	broad.mit.edu	37	2	87042831	87042831	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:87042831C>T	uc002srw.3	-	5	690	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_3'UTR|CD8B_uc002sry.3_Missense_Mutation_p.E181K|CD8B_uc010fgt.3_Silent_p.G168G	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	0					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATATACCTTCCCCTTGAGGC	0.408000														144			71		0	0	0.003610	0	0
OR6K3	391114	broad.mit.edu	37	1	158687328	158687328	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:158687328G>A	uc021pbn.1	-	0	578	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAGAATCATGGACGTGTCTGT	0.453000														133			45		0	0	0.003610	0	0
CATSPERB	79820	broad.mit.edu	37	14	92076893	92076893	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:92076893G>A	uc001xzs.1	-	20	2669	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	CATSPERB_uc010aub.1_Silent_p.I365I	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	843					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CTTCAAATGGGATAAATTTGC	0.378000														35			26		0	0	0.004656	0	0
HTT	3064	broad.mit.edu	37	4	3101017	3101017	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:3101017C>T	uc021xkv.1	+	2	509	c.364C>T	c.(364-366)Cag>Tag	p.Q122*		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	122					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCAGAATTTCAGAAACTTCT	0.433000														80			82		0	0	0.003610	0	0
SLC17A8	246213	broad.mit.edu	37	12	100784803	100784803	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:100784803G>A	uc010svi.2	+	2	692	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC17A8_uc009ztx.3_Missense_Mutation_p.E127K	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	127					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CTGGGATCCAGAAACAGTGGG	0.388000														70			28		0	0	0.008361	0	0
BACH2	60468	broad.mit.edu	37	6	90660621	90660621	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:90660621C>T	uc011eab.2	-	6	2078	c.1204G>A	c.(1204-1206)Gtg>Atg	p.V402M	BACH2_uc003pnw.3_Missense_Mutation_p.V402M|BACH2_uc010kch.3_Missense_Mutation_p.V402M	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	402						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AAGTTGGACACCTCCTTCTGG	0.582000														19			17		0	0	0.007413	0	0
DENND1C	79958	broad.mit.edu	37	19	6468102	6468102	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:6468102C>T	uc002mfe.3	-	22	1911	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	DENND1C_uc002mfb.3_Missense_Mutation_p.D157N|DENND1C_uc002mfc.3_Missense_Mutation_p.D157N|DENND1C_uc002mfd.3_Missense_Mutation_p.D157N|DENND1C_uc010xje.2_Missense_Mutation_p.D563N	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	607						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AGTTTCTTATCGTCTGGTTGC	0.542000														22			15		0	0	0.006122	0	0
ABCA12	26154	broad.mit.edu	37	2	215820071	215820071	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:215820071G>A	uc002vew.3	-	42	6468	c.6248C>T	c.(6247-6249)tCc>tTc	p.S2083F	ABCA12_uc002vev.3_Missense_Mutation_p.S1765F|ABCA12_uc010zjn.2_Missense_Mutation_p.S1010F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2083					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTACATCCAGGAAAATGTTGC	0.438000														12			9		0	0	0.008291	0	0
SRP54	6729	broad.mit.edu	37	14	35482571	35482571	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:35482571A>T	uc001wso.3	+	8	1007	c.656A>T	c.(655-657)tAt>tTt	p.Y219F	SRP54_uc010tpp.2_Missense_Mutation_p.Y170F|SRP54_uc010tpq.2_Missense_Mutation_p.Y155F	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	219	G-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AACATTGTTTATGTGATGGAT	0.348000														29			18		0	0	0.002780	0	0
IP6K1	9807	broad.mit.edu	37	3	49775748	49775748	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49775748C>G	uc021wyl.1	-	2	984	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	IP6K1_uc003cxm.1_Missense_Mutation_p.E111Q|IP6K1_uc003cxn.1_5'UTR	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	111					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.R110Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						CGAGGTTGCTCCCGTTCTGTT	0.547000														64			19		0	0	0.007413	0	0
CCNI	10983	broad.mit.edu	37	4	77977123	77977123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:77977123G>A	uc003hkm.3	-	4	995	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	CCNI_uc011ccb.2_Missense_Mutation_p.L137F	NM_006835	NP_006826	Q14094	CCNI_HUMAN	Homo sapiens cyclin I (CCNI), mRNA.	151					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						ACAATATGAAGAAAATCCAAT	0.318000														35			27		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9077116	9077116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9077116G>A	uc002mkp.3	-	2	10534	c.10330C>T	c.(10330-10332)Cct>Tct	p.P3444S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3445	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						GTGACATCAGGAGATGCACCA	0.478000														44			28		0	0	0.004656	0	0
EEFSEC	60678	broad.mit.edu	37	3	128126937	128126937	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:128126937G>A	uc003eki.3	+	6	1664	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	542						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						AGTCCAAGAAGATCCTGACAC	0.692000														14			7		0	0	0.003080	0	0
DVL2	1856	broad.mit.edu	37	17	7132931	7132931	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:7132931C>T	uc002gez.1	-	5	1005	c.723G>A	c.(721-723)aaG>aaA	p.K241K	DVL2_uc010vtr.1_Silent_p.K235K|DVL2_uc010vts.1_Silent_p.K143K|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	241					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTGGCCTCTGCTTCCTTCGCC	0.647000														41			22		0	0	0.002780	0	0
FAM98C	147965	broad.mit.edu	37	19	38899412	38899412	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38899412G>A	uc002oin.1	+	7	959	c.940G>A	c.(940-942)Gac>Aac	p.D314N	FAM98C_uc002oio.1_Missense_Mutation_p.D232N|FAM98C_uc010xtz.1_Missense_Mutation_p.R180K	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	Homo sapiens family with sequence similarity 98, member C (FAM98C), mRNA.	314										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAACGTTCCAGACCGGGGGGG	0.562000														70			28		0	0	0.005443	0	0
CRABP2	1382	broad.mit.edu	37	1	156670740	156670740	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:156670740C>G	uc001fpr.3	-	1	396	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	CRABP2_uc021pbi.1_Missense_Mutation_p.V59L	NM_001878	NP_001869	P29373	RABP2_HUMAN	Homo sapiens cellular retinoic acid binding protein 2 (CRABP2), transcript variant 1, mRNA.	59					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	GTGGTGCGCACGGTGGTGGAG	0.547000														57			13		0	0	0.002450	0	0
FBXL6	26233	broad.mit.edu	37	8	145579751	145579751	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:145579751T>G	uc003zcb.3	-	7	1425	c.1349A>C	c.(1348-1350)cAg>cCg	p.Q450P	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.Q177P|FBXL6_uc003zca.3_Missense_Mutation_p.Q444P|FBXL6_uc010mfx.3_Missense_Mutation_p.Q211P|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	450					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			ACTGAACCCCTGGCCACTCAA	0.607000														126			63		0	0	0.003610	0	0
MOCS3	27304	broad.mit.edu	37	20	49576006	49576006	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:49576006G>A	uc002xvy.1	+	0	644	c.627G>A	c.(625-627)gaG>gaA	p.E209E	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	209					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGCGCTTCGAGGGCCAAATCA	0.617000														59			18		0	0	0.008871	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922062	89922062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:89922062G>A	uc002foz.1	+	5	998	c.946G>A	c.(946-948)Gac>Aac	p.D316N	SPIRE2_uc010civ.1_Missense_Mutation_p.D231N|SPIRE2_uc010ciw.1_Missense_Mutation_p.D316N|SPIRE2_uc002fpa.1_Missense_Mutation_p.D268N|SPIRE2_uc010cix.1_Missense_Mutation_p.D183N	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	316					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GCTCATCCTGGACTTTATCCG	0.677000														23			11		0	0	0.002450	0	0
RP1L1	94137	broad.mit.edu	37	8	10465835	10465835	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:10465835G>A	uc003wtc.3	-	3	6002	c.5773C>T	c.(5773-5775)Ctg>Ttg	p.L1925L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1925					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCAGTCTCCAGGGCCTCTACA	0.627000														95			36		0	0	0.003755	0	0
FAT2	2196	broad.mit.edu	37	5	150946847	150946847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:150946847G>A	uc003lue.4	-	0	1659	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	FAT2_uc010jhx.1_Missense_Mutation_p.S549F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	549	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAAAATGGACACTTCCTT	0.473000														124			23		0	0	0.003954	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5549574	5549574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:5549574G>A	uc011lmc.2	+	3	874	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.E201K|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.E201K|PDCD1LG2_uc010mhp.1_Intron|PDCD1LG2_uc010mho.1_Intron	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	201	Ig-like C2-type.				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCACGTGAGGGAACTTACTTT	0.517000														46			12		0	0	0.001368	0	0
SLC5A9	200010	broad.mit.edu	37	1	48697266	48697266	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:48697266G>A	uc001crn.2	+	6	787	c.735G>A	c.(733-735)atG>atA	p.M245I	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.M220I|SLC5A9_uc010omt.1_Missense_Mutation_p.M234I|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGTGATCATGGTAGGGGGAG	0.542000														35			5		0	0	0.000602	0	0
RELN	5649	broad.mit.edu	37	7	103185575	103185575	+	Silent	SNP	G	A	A	rs146913017	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:103185575G>A	uc022ajr.1	-	41	6679	c.6519C>T	c.(6517-6519)ttC>ttT	p.F2173F	RELN_uc022ajq.1_Silent_p.F2173F|RELN_uc010liz.3_Silent_p.F2173F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2173					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GACTACCTTCGAAATCATCTT	0.323000														18			15		0	0	0.002450	0	0
ACOX3	8310	broad.mit.edu	37	4	8383293	8383294	+	Nonsense_Mutation	DNP	GG	AA	AA	rs146945288		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:8383293_8383294GG>AA	uc010idk.3	-	13	1723_1724	c.1578_1579CC>TT	c.(1576-1581)ctccga>ctTTga	p.R527*	ACOX3_uc003glc.4_Nonsense_Mutation_p.R527*|ACOX3_uc003gld.4_Nonsense_Mutation_p.R527*	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	527					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TAAGTCTCTCGGAGCAGGTAGC	0.406000														159			32		0	0	0.004672	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024309	27024309	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:27024309G>A	uc003acz.4	+	4	393	c.358G>A	c.(358-360)Gga>Aga	p.G120R		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	120	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGGCAAGAAAGGAGAGCTGAG	0.542000														37			24		0	0	0.003954	0	0
WNT9B	7484	broad.mit.edu	37	17	44953631	44953631	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:44953631G>A	uc002ikw.1	+	3	658	c.621G>A	c.(619-621)agG>agA	p.R207R	WNT9B_uc002ikx.1_Silent_p.R207R	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	207					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GTGGCCTCAGGACCACGTGTA	0.657000														19			10		0	0	0.006214	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671494	31671494	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:31671494G>A	uc010zue.2	+	2	506	c.491G>A	c.(490-492)gGg>gAg	p.G164E		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	164	Gly-rich.					cytoplasm|extracellular region	lipid binding										GTTGCCACTGGGGCGGTGGGC	0.677000														59			20		0	0	0.008871	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091802	30091802	+	RNA	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:30091802T>G	uc010dmc.3	+	0		c.177T>G								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		AATGAACAAGTAAACCATACA	0.438000														25			25		0	0	0.003330	0	0
EP300	2033	broad.mit.edu	37	22	41573345	41573345	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:41573345C>T	uc003azl.4	+	30	6025	c.5630C>T	c.(5629-5631)cCt>cTt	p.P1877L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1877					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGCCTCAGCCTACCCCTCCC	0.647000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					125			15		0	0	0.004007	0	0
PROL1	58503	broad.mit.edu	37	4	71275427	71275427	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:71275427C>T	uc003hfi.3	+	2	556	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	128	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.P128S(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCCTCCTATTCCTTTTTTTCT	0.433000														54			38		0	0	0.006999	0	0
CUX2	23316	broad.mit.edu	37	12	111785550	111785550	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:111785550C>T	uc001tsa.2	+	21	4036	c.3882C>T	c.(3880-3882)gcC>gcT	p.A1294A		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1294						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGACAAGGCCCAAGTGAGGA	0.607000														28			5		0	0	0.001168	0	0
OR11A1	26531	broad.mit.edu	37	6	29395052	29395053	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:29395052_29395053GG>AA	uc003nmg.3	-	0	457_458	c.366_367CC>TT	c.(364-369)gaccgc>gaTTgc	p.R123C		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCCAGGTAGCGGTCATATGCCA	0.535000														145			17		0	0	0.004672	0	0
NCR2	9436	broad.mit.edu	37	6	41318576	41318576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41318576G>A	uc003oqh.2	+	4	892	c.805G>A	c.(805-807)Gat>Aat	p.D269N	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	269	Poly-Asp.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					taagataagcgatgatgatga	0.403000														78			7		0	0	0.001984	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887778	9887778	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:9887778C>T	uc002koi.4	+	1	1751	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	TXNDC2_uc002koh.4_Silent_p.I367I|TXNDC2_uc021ugx.1_Silent_p.I367I	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	434	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACATCCTAAAGCCTG	0.547000														40			9		0	0	0.004482	0	0
CD40	958	broad.mit.edu	37	20	44750951	44750951	+	Silent	SNP	C	T	T	rs11478618		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:44750951C>T	uc002xrg.1	+	2	287	c.210C>T	c.(208-210)acC>acT	p.T70T	CD40_uc002xrf.1_Silent_p.T70T|CD40_uc002xrh.1_Silent_p.T70T|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	70					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	TCCTAGACACCTGGAACAGAG	0.527000									Immune Deficiency with Hyper-IgM					55			19		0	0	0.008871	0	0
OC90	729330	broad.mit.edu	37	8	133051336	133051336	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:133051336G>A	uc003ytg.2	-	4	444	c.444C>T	c.(442-444)acC>acT	p.T148T	OC90_uc011lix.1_Silent_p.T164T	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	164	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CCTTATCACAGGTACACAGCA	0.527000														32			12		0	0	0.000978	0	0
CNGA3	1261	broad.mit.edu	37	2	99013680	99013680	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:99013680C>T	uc010fij.3	+	7	2200	c.2059C>T	c.(2059-2061)Ccc>Tcc	p.P687S	CNGA3_uc002syt.3_Missense_Mutation_p.P683S|CNGA3_uc002syu.3_Missense_Mutation_p.P665S			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	683					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGGGAAGTTCCCGGGGATGC	0.552000														24			10		0	0	0.001368	0	0
EGR1	1958	broad.mit.edu	37	5	137803292	137803293	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:137803292_137803293CC>TT	uc003ldb.1	+	1	1424_1425	c.1154_1155CC>TT	c.(1153-1155)acc>aTT	p.T385I		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	385					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACCTCACCACCCACATCCGCA	0.599000														58			11		0	0	0.004672	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921548	159921548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159921548C>T	uc001fus.3	-	3	890	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	SLAMF9_uc009wtd.3_Missense_Mutation_p.R167Q|SLAMF9_uc001fut.3_3'UTR	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	258						integral to membrane		p.I257M(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTCTGGACTCGGATGACCCA	0.498000														68			51		0	0	0.003610	0	0
DBX2	440097	broad.mit.edu	37	12	45410236	45410236	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:45410236G>T	uc001rok.1	-	3	1025	c.853C>A	c.(853-855)Cag>Aag	p.Q285K		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		CTTGAGTGCTGTTGGGGGACG	0.512000														74			24		2.49675e-24	3.75312e-24	0.007291	1	0
PTK7	5754	broad.mit.edu	37	6	43099757	43099757	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43099757C>T	uc011dve.1	+	5	882	c.840C>T	c.(838-840)ccC>ccT	p.P280P	PTK7_uc003oub.1_Silent_p.P272P|PTK7_uc003ouc.1_Silent_p.P272P|PTK7_uc003oud.1_Silent_p.P272P|PTK7_uc003oue.1_Silent_p.P272P|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Silent_p.P272P	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	272	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCTGCAGCCCCCCACACCTCC	0.582000														77			15		0	0	0.008871	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777260	18777260	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:18777260G>A	uc003zne.4	+	18	3185	c.3033G>A	c.(3031-3033)cgG>cgA	p.R1011R		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1011						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGAGAAGCGGGGCCTGGCCG	0.706000														6			10		0	0	0.008291	0	0
SGPP2	130367	broad.mit.edu	37	2	223339404	223339404	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:223339404A>T	uc010zlo.2	+	1	337	c.337A>T	c.(337-339)Att>Ttt	p.I113F	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	113					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCACTGGAATATTGACCCTTA	0.348000														31			20		0	0	0.001882	0	0
COL14A1	7373	broad.mit.edu	37	8	121239556	121239556	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:121239556G>A	uc003yox.3	+	16	2367	c.2102G>A	c.(2101-2103)aGc>aAc	p.S701N	COL14A1_uc003yoy.3_Missense_Mutation_p.S379N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	701	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGATGGAAGCGAGAGTGAG	0.512000														148			23		0	0	0.004656	0	0
ANKMY1	51281	broad.mit.edu	37	2	241494370	241494370	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:241494370C>A	uc010fzd.1	-	2	374	c.249G>T	c.(247-249)caG>caT	p.Q83H	ANKMY1_uc002vzb.1_Missense_Mutation_p.Q83H|ANKMY1_uc002vzc.1_Missense_Mutation_p.Q83H|ANKMY1_uc002vyz.1_5'UTR|ANKMY1_uc002vza.1_Missense_Mutation_p.Q83H|ANKMY1_uc002vzd.1_Missense_Mutation_p.Q83H|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_5'UTR|ANKMY1_uc002vzf.3_5'UTR	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	0							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CCTGCCACTCCTGCACACCCT	0.572000														57			47		2.01872e-29	3.04011e-29	0.003610	1	0
GPR146	115330	broad.mit.edu	37	7	1097763	1097763	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:1097763C>T	uc003sjx.4	+	1	811	c.612C>T	c.(610-612)ctC>ctT	p.L204L	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Silent_p.L204L	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	204						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGGCCACCCTCTACGCGCTGG	0.692000														25			4		0	0	0.000248	0	0
CDK11B	984	broad.mit.edu	37	1	1575742	1575742	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:1575742G>A	uc001agv.1	-	11	1224	c.1141C>T	c.(1141-1143)Ccg>Tcg	p.P381S	CDK11B_uc009vkj.2_Missense_Mutation_p.P40S|CDK11B_uc001ags.1_Missense_Mutation_p.P241S|CDK11B_uc001agt.1_Missense_Mutation_p.P166S|CDK11B_uc001aha.1_Missense_Mutation_p.P347S|CDK11B_uc001agw.1_Missense_Mutation_p.P331S|CDK11B_uc001agy.1_Missense_Mutation_p.P374S|CDK11B_uc001agx.1_Missense_Mutation_p.P365S|CDK11B_uc001agz.1_Missense_Mutation_p.P127S	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	396	Glu-rich.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTGCTCTGCGGCGTTCCCTCA	0.597000														34			10		0	0	0.008291	0	0
CYP2W1	54905	broad.mit.edu	37	7	1024668	1024668	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:1024668G>A	uc003sjq.1	+	2	433	c.420G>A	c.(418-420)cgG>cgA	p.R140R	CYP2W1_uc003sjr.1_Silent_p.R140R	NM_017781	NP_060251	Q8TAV3	CP2W1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily W, polypeptide 1 (CYP2W1), mRNA.	140					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCGTGGGCCGGGAGCCGGTGG	0.672000														74			9		0	0	0.004482	0	0
BC128043	0	broad.mit.edu	37	20	25269047	25269047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:25269047C>T	uc010gdm.1	-	0	357	c.163G>A	c.(163-165)Gga>Aga	p.G55R	PYGB_uc002wup.3_Intron					Homo sapiens cDNA clone IMAGE:40077439.																		GAGTCTCTTCCGTGTGTCCTG	0.622000														84			18		0	0	0.004990	0	0
NBPF1	55672	broad.mit.edu	37	1	16902764	16902764	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:16902764G>A	uc009vos.1	-	18	3005	c.2117C>T	c.(2116-2118)cCa>cTa	p.P706L	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Missense_Mutation_p.P164L|NBPF1_uc010oce.1_Missense_Mutation_p.P435L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	706						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CACCTTACCTGGGCTGAGCTT	0.537000														355			14		0	0	0.001523	0	0
CSMD1	64478	broad.mit.edu	37	8	3087615	3087615	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:3087615C>G	uc022aqr.1	-	26	4682	c.4292G>C	c.(4291-4293)tGt>tCt	p.C1431S	CSMD1_uc011kwj.2_Missense_Mutation_p.C824S|CSMD1_uc003wqe.3_Missense_Mutation_p.C588S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1432	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGCTGCACACAGGTGATTTT	0.478000														61			16		0	0	0.001523	0	0
MICAL2	9645	broad.mit.edu	37	11	12270730	12270730	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:12270730G>A	uc001mjz.3	+	22	3073	c.2785_splice	c.e22-1	p.E929_splice	MICAL2_uc010rch.1_Splice_Site_p.E739_splice|MICAL2_uc001mka.3_Splice_Site_p.E929_splice|MICAL2_uc010rci.2_Intron|MICAL2_uc001mkb.3_Splice_Site_p.E739_splice|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Splice_Site_p.E141_splice|MICAL2_uc001mkf.3_Intron	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	929						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCTTTCTAAAGGAAaagaagt	0.448000														30			11		0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141607881	141607881	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:141607881G>A	uc002tvj.1	-	28	5701	c.4729C>T	c.(4729-4731)Ctt>Ttt	p.L1577F	LRP1B_uc010fnl.1_Missense_Mutation_p.L759F	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1577					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1576F(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)		CTTGCATAAAGAAGAAATTTT	0.303000										TSP Lung(27;0.18)				10			11		0	0	0.000978	0	0
LOC645166	645166	broad.mit.edu	37	1	148932815	148932815	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:148932815C>T	uc010pbc.1	+	1		c.130C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		AGCTAGCCCGCCAGGCCTCCA	0.597000														145			12		0	0	0.000978	0	0
CCDC146	57639	broad.mit.edu	37	7	76871183	76871183	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:76871183G>A	uc003uga.3	+	3	542	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	139										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGCAGTGAAGGAAAGAGAGTT	0.373000														26			21		0	0	0.001882	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735933	41735933	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:41735933C>T	uc003azw.3	+	9	1146	c.930C>T	c.(928-930)atC>atT	p.I310I		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	326					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGGCTCCATCCCTGTCTCCA	0.687000														51			17		0	0	0.004990	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037197	129037197	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:129037197G>A	uc003kvb.1	+	19	3053	c.3053G>A	c.(3052-3054)aGg>aAg	p.R1018K	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1018	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCCCGAGAGAGGGACTGCATT	0.582000														79			16		0	0	0.008871	0	0
SPERT	220082	broad.mit.edu	37	13	46287346	46287346	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:46287346C>T	uc001van.1	+	2	266	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SPERT_uc001vao.2_Silent_p.L26L	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	62						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TCCCGAGGCTCCACAACTTGT	0.647000														8			10		0	0	0.000978	0	0
CXorf58	254158	broad.mit.edu	37	X	23956695	23956695	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:23956695C>T	uc004daz.1	+	7	1161	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	CXorf58_uc011mju.1_Missense_Mutation_p.R273W	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	273										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ACCTCTATATCGGCCCTACAA	0.333000														3			51		0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147010991	147010991	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:147010991C>T	uc010jgo.1	-	12	2008	c.1860G>A	c.(1858-1860)atG>atA	p.M620I	JAKMIP2_uc003loq.1_Missense_Mutation_p.M620I|JAKMIP2_uc011dbx.1_Missense_Mutation_p.M578I|JAKMIP2_uc003lor.1_Missense_Mutation_p.M599I|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	620						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTCTTTCATACAGTAGA	0.383000														29			23		0	0	0.005443	0	0
FAT1	2195	broad.mit.edu	37	4	187539895	187539895	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:187539895G>A	uc003izf.3	-	9	8033	c.7845C>T	c.(7843-7845)gtC>gtT	p.V2615V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2615	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAACTTTAACGACTGAAGTCC	0.428000										HNSCC(5;0.00058)				25			12		0	0	0.002450	0	0
TRIM27	5987	broad.mit.edu	37	6	28872399	28872399	+	Silent	SNP	G	A	A	rs141777208		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28872399G>A	uc003nlr.3	-	7	1349	c.990C>T	c.(988-990)atC>atT	p.I330I	TRIM27_uc003nls.3_Silent_p.I330I|TRIM27_uc003nlt.1_3'UTR	NM_006510	NP_006501	P14373	TRI27_HUMAN	Homo sapiens tripartite motif containing 27 (TRIM27), mRNA.	330	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	PML body|cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TATCAGAGAGGATCAGGCTGG	0.552000			T	RET	papillary thyroid									64			8		0	0	0.004482	0	0
HARBI1	283254	broad.mit.edu	37	11	46625266	46625266	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:46625266G>A	uc001ncy.3	-	2	1112	c.864C>T	c.(862-864)tcC>tcT	p.S288S		NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	288						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TGATATGGCTGGATTTCTCTG	0.542000														13			13		0	0	0.001368	0	0
SH3GL2	6456	broad.mit.edu	37	9	17786423	17786423	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:17786423C>T	uc003zna.3	+	3	520	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	SH3GL2_uc011lmx.1_Missense_Mutation_p.R43C|SH3GL2_uc011lmy.2_Missense_Mutation_p.R31C	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	78	BAR.|Binds and tubulates liposomes (By similarity).|Required for dimerization upon membrane association (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GTCAAAAATCCGTGGCCAGGA	0.507000														40			33		0	0	0.004289	0	0
BANK1	55024	broad.mit.edu	37	4	102994886	102994886	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:102994886A>G	uc003hvy.4	+	15	2618	c.2344A>G	c.(2344-2346)Aag>Gag	p.K782E	BANK1_uc003hvx.4_Missense_Mutation_p.K767E|BANK1_uc010ill.3_Missense_Mutation_p.K649E|BANK1_uc003hvz.4_Missense_Mutation_p.K752E	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	782					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TTTCTGTTGCAAGAAAGATCA	0.318000														31			22		0	0	0.003954	0	0
PCDH12	51294	broad.mit.edu	37	5	141335404	141335404	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:141335404C>T	uc003llx.3	-	0	3224	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	671	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCAGCTCCCACTCACTCC	0.567000														23			16		0	0	0.004990	0	0
CYP3A7	1551	broad.mit.edu	37	7	99247856	99247856	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:99247856C>T	uc003urq.3	-	12	1356	c.1254_splice	c.e12-1	p.R418_splice	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Splice_Site_p.R305_splice|CYP3A7_uc011kiy.2_Splice_Site_p.R408_splice|CYP3A7_uc003urs.3_Splice_Site_p.R66_splice|CYP3A7_uc010lgg.3_Splice_Site_p.L24_splice	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	418					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CTTACTGAACCTAGTTCCATA	0.408000														54			32		0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179413030	179413030	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179413030A>T	uc021vsy.1	-	287	85844	c.85619T>A	c.(85618-85620)aTt>aAt	p.I28540N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I22235N|TTN_uc021vta.1_Missense_Mutation_p.I22168N|TTN_uc021vtb.1_Missense_Mutation_p.I22043N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29467	Ig-like 132.						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)			TGTGGCTACAATTGGTTCTGG	0.473000														58			66		0	0	0.003610	0	0
RICTOR	253260	broad.mit.edu	37	5	38954908	38954908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:38954908G>A	uc003jlo.2	-	26	2687	c.2665C>T	c.(2665-2667)Cat>Tat	p.H889Y	RICTOR_uc003jlp.2_Missense_Mutation_p.H889Y|RICTOR_uc010ivf.2_Missense_Mutation_p.H604Y	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	889					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding	p.H889N(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCTGTTTTATGGTGTACTAGT	0.313000														67			35		0	0	0.006230	0	0
MEP1A	4224	broad.mit.edu	37	6	46787321	46787321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:46787321G>A	uc011dwh.1	+	5	528	c.520G>A	c.(520-522)Gga>Aga	p.G174R	MEP1A_uc010jzh.1_Missense_Mutation_p.G146R|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.G46R	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	146	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CATTGGCCAAGGATGTGCCTA	0.443000														134			35		0	0	0.002445	0	0
CCDC170	80129	broad.mit.edu	37	6	151917610	151917610	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:151917610G>A	uc003qol.3	+	8	1697	c.1608G>A	c.(1606-1608)agG>agA	p.R536R		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	536																	TTACCATCAGGAACTTGCAGA	0.557000														39			24		0	0	0.002780	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284803	52284803	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52284803C>T	uc001rzd.3	+	4	1251	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Intron|ANKRD33_uc001rze.3_Missense_Mutation_p.S254F|ANKRD33_uc001rzg.4_Intron|ANKRD33_uc001rzi.4_Intron	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	234										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GTTCCCCAGTCCCCGCCAGGG	0.642000														23			9		0	0	0.006214	0	0
ZIM3	114026	broad.mit.edu	37	19	57646987	57646987	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57646987G>A	uc002qnz.1	-	4	1104	c.718C>T	c.(718-720)Caa>Taa	p.Q240*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCTGATGTTGAAAGAGATTT	0.383000														79			39		0	0	0.006230	0	0
IL28RA	163702	broad.mit.edu	37	1	24484157	24484157	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:24484157G>A	uc001bis.3	-	6	1053	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	IL28RA_uc001bir.3_Silent_p.P313P|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.P258P	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	342					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		GTTCAATGTAGGGCTGGAAGC	0.617000														59			32		0	0	0.001786	0	0
PHLPP2	23035	broad.mit.edu	37	16	71701153	71701153	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:71701153G>A	uc002fax.3	-	10	1718	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.P571L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	571						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CACCTCGAGGGGGATGTGCTC	0.473000														52			27		0	0	0.004656	0	0
LILRB1	10859	broad.mit.edu	37	19	55144129	55144129	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55144129G>A	uc002qgj.3	+	6	1216	c.876G>A	c.(874-876)ggG>ggA	p.G292G	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.G292G|LILRB1_uc002qgk.3_Silent_p.G292G|LILRB1_uc002qgm.3_Silent_p.G292G|LILRB1_uc010erq.3_Silent_p.G292G|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	292	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCTCCTACGGGGGCCAGTACA	0.672000										HNSCC(37;0.09)				43			22		0	0	0.005443	0	0
C6orf15	29113	broad.mit.edu	37	6	31079678	31079679	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31079678_31079679CC>TT	uc003nsk.1	-	1	457_458	c.457_458GG>AA	c.(457-459)ggg>AAg	p.G153K	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	153										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						AGAAGACTCCCCAGGCAAAGGG	0.649000														135			17		0	0	0.004672	0	0
HTR3D	200909	broad.mit.edu	37	3	183756374	183756374	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183756374G>A	uc011bqv.2	+	6	1097	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR3D_uc003fmj.3_Missense_Mutation_p.G191E|HTR3D_uc011bqu.2_Missense_Mutation_p.G316E|HTR3D_uc010hxp.3_Missense_Mutation_p.G145E	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	366						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCCAGAAGGGAAATAAGGGC	0.657000														18			6		0	0	0.001984	0	0
ABCB4	5244	broad.mit.edu	37	7	87042978	87042978	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:87042978C>T	uc003uiv.1	-	21	2814	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	ABCB4_uc003uiw.1_Missense_Mutation_p.R913K|ABCB4_uc003uix.1_Missense_Mutation_p.R913K	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	913	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTCAAATTTTCTTTCCTGGGT	0.358000														47			31		0	0	0.002836	0	0
HSD17B4	3295	broad.mit.edu	37	5	118844910	118844910	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:118844910G>A	uc003ksj.3	+	15	1541	c.1408G>A	c.(1408-1410)Ggt>Agt	p.G470S	HSD17B4_uc011cwh.2_Missense_Mutation_p.G452S|HSD17B4_uc011cwg.2_Missense_Mutation_p.G446S|HSD17B4_uc011cwi.2_Missense_Mutation_p.G495S|HSD17B4_uc003ksk.4_Missense_Mutation_p.G323S|HSD17B4_uc011cwj.2_Missense_Mutation_p.G323S|HSD17B4_uc010jcn.2_Missense_Mutation_p.G208S	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	470	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TGGAGGCTTTGGTGGAAAACG	0.348000														147			35		0	0	0.008740	0	0
MKRN3	7681	broad.mit.edu	37	15	23811821	23811821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:23811821G>A	uc001ywh.4	+	0	1368	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.E298K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	298						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.M297T(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAAAGATATGGAACTCTCGTT	0.537000														21			4		0	0	0.000248	0	0
PRKACG	5568	broad.mit.edu	37	9	71628130	71628130	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:71628130C>T	uc004agy.3	-	0	910	c.879G>A	c.(877-879)aaG>aaA	p.K293K		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	293	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						ACTTGTGGTTCTTGATGTCGC	0.572000														11			116		0	0	0.003610	0	0
GPR32	2854	broad.mit.edu	37	19	51274811	51274811	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:51274811C>T	uc010ycf.2	+	0	954	c.954C>T	c.(952-954)ttC>ttT	p.F318F		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	318						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTACGTCTTCGTTGGCAGAG	0.542000														36			30		0	0	0.002096	0	0
NCAM1	4684	broad.mit.edu	37	11	113130934	113130934	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:113130934C>T	uc021qqp.1	+	16	2458	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	NCAM1_uc001pnp.3_Silent_p.L695L|NCAM1_uc021qqo.1_Silent_p.L660L|NCAM1_uc001pnq.3_Silent_p.L670L|NCAM1_uc001pnr.3_Silent_p.L660L|NCAM1_uc001pns.3_Silent_p.L54L	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	674	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCTGAAGTCCCTGGACTGGAA	0.557000														32			12		0	0	0.000978	0	0
TTC4	7268	broad.mit.edu	37	1	55197279	55197279	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:55197279C>T	uc001cxv.3	+	6	967	c.835C>T	c.(835-837)Cta>Tta	p.L279L	HEATR8_uc001cxq.3_Intron|TTC4_uc001cxx.4_Silent_p.L268L			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	268							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						CAGGCTGAGTCTAGATGGCCA	0.547000														17			14		0	0	0.002450	0	0
TOX	9760	broad.mit.edu	37	8	59720828	59720828	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:59720828C>T	uc003xtw.1	-	8	1614	c.1393_splice	c.e8-1	p.G465_splice		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	465						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGAGTAAATCCCTGAAAGGGA	0.418000											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			18		0	0	0.007413	0	0
RNF183	138065	broad.mit.edu	37	9	116060000	116060000	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:116060000G>A	uc022bmd.1	-	0	465	c.465C>T	c.(463-465)ttC>ttT	p.F155F	RNF183_uc004bgz.3_Silent_p.F155F|RNF183_uc004bha.3_Silent_p.F155F	NM_145051	NP_659488	Q96D59	RN183_HUMAN	Homo sapiens ring finger protein 183 (RNF183), mRNA.	155						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						GAGGGTTGCGGAAACACTCCC	0.587000														3			40		0	0	0.003214	0	0
CA10	56934	broad.mit.edu	37	17	50008441	50008441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:50008441C>T	uc002itv.4	-	3	942	c.206G>A	c.(205-207)gGg>gAg	p.G69E	CA10_uc002itw.4_Missense_Mutation_p.G63E|CA10_uc002itx.4_Missense_Mutation_p.G63E|CA10_uc002ity.4_Missense_Mutation_p.G63E|CA10_uc002itz.2_Missense_Mutation_p.G63E	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	63					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGCCGTTTCCCCACAGAGCA	0.488000														253			49		0	0	0.003610	0	0
C20orf26	26074	broad.mit.edu	37	20	20144803	20144803	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:20144803C>T	uc002wru.3	+	10	1250	c.1136C>T	c.(1135-1137)cCc>cTc	p.P379L	C20orf26_uc010gcw.2_Missense_Mutation_p.P333L|C20orf26_uc010zse.2_Missense_Mutation_p.P379L|C20orf26_uc010zsf.1_Missense_Mutation_p.P379L	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	379										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CACTTCCGCCCCATCTACAGG	0.498000														91			21		0	0	0.001882	0	0
B4GALT7	11285	broad.mit.edu	37	5	177031345	177031345	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:177031345C>T	uc003mhy.3	+	1	309	c.216C>T	c.(214-216)ccC>ccT	p.P72P	B4GALT7_uc003mhz.3_5'UTR	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7), mRNA.	72					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCCCTCCCCGTGCCTGCC	0.701000														6			4		0	0	0.000248	0	0
FGD6	55785	broad.mit.edu	37	12	95604835	95604835	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:95604835G>A	uc001tdp.4	-	1	449	c.225C>T	c.(223-225)atC>atT	p.I75I	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	75					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGTTCAACATGATTTTCCTTG	0.408000														214			80		0	0	0.003610	0	0
MX2	4600	broad.mit.edu	37	21	42767611	42767611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:42767611G>A	uc002yzf.1	+	6	1073	c.969G>A	c.(967-969)atG>atA	p.M323I	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.M46I	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	323					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGGGCTACATGATTGTGAAGT	0.488000														28			17		0	0	0.008871	0	0
BSN	8927	broad.mit.edu	37	3	49691938	49691938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49691938G>A	uc003cxe.4	+	4	5063	c.4949G>A	c.(4948-4950)gGg>gAg	p.G1650E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1650					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.G1650E(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTGTCCCTGGGACGTCTAGG	0.642000														17			9		0	0	0.004482	0	0
CSMD2	114784	broad.mit.edu	37	1	34192243	34192243	+	Silent	SNP	G	A	A	rs140431671		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:34192243G>A	uc001bxm.1	-	15	2589	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	CSMD2_uc001bxn.1_Silent_p.L764L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	764	CUB 5.					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)				AGCCCGGAGAGAGGATGGTGC	0.577000														39			14		0	0	0.002450	0	0
TCRA	0	broad.mit.edu	37	14	22616359	22616359	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:22616359G>C	uc010ajk.2	+	1	186	c.100G>C	c.(100-102)Gga>Cga	p.G34R	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		CATCCAAGAGGGAGAAAATCT	0.507000														13			13		0	0	0.001855	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681098	45681098	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:45681098C>T	uc002zeg.1	-	1	529	c.45G>A	c.(43-45)atG>atA	p.M15I	DNMT3L_uc002zeh.1_Missense_Mutation_p.M15I	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	15					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)		AAATCACGTCCATGCTGGGCT	0.597000														40			24		0	0	0.003330	0	0
IL17RD	54756	broad.mit.edu	37	3	57139951	57139951	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:57139951G>A	uc003dil.3	-	6	770	c.681C>T	c.(679-681)ttC>ttT	p.F227F	IL17RD_uc003dik.3_Silent_p.F203F|IL17RD_uc010hna.3_Silent_p.F83F|IL17RD_uc011bex.1_Silent_p.F83F	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	227						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		AGAAGAAACGGAAGCCGAAGT	0.522000														30			12		0	0	0.002450	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606475	31606475	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:31606475C>T	uc002wyj.3	+	8	896	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	234						extracellular region	lipid binding										AGCCCATCATCCTGCCCACGG	0.632000														143			37		0	0	0.002222	0	0
OPRK1	4986	broad.mit.edu	37	8	54142080	54142080	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:54142080G>A	uc003xrh.1	-	2	1295	c.920C>T	c.(919-921)gCt>gTt	p.A307V	OPRK1_uc022aup.1_Missense_Mutation_p.A187V|OPRK1_uc003xri.1_Missense_Mutation_p.A307V|OPRK1_uc010lyc.1_Missense_Mutation_p.A218V	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	307					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGAGAGAGCAGCTGTGCTGTG	0.527000														42			28		0	0	0.006320	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990946	43990946	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:43990946C>T	uc001zsn.3	+	8	1511	c.1119C>T	c.(1117-1119)gaC>gaT	p.D373D	CKMT1A_uc010uea.2_Silent_p.D404D	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	373	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	p.L372L(1)		lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTAATTTGGACCGACTAGGCA	0.507000														55			42		0	0	0.003610	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86522401	86522401	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:86522401A>C	uc011kha.2	-	19	2886	c.2701T>G	c.(2701-2703)Tgg>Ggg	p.W901G	KIAA1324L_uc003uie.3_Missense_Mutation_p.W734G|KIAA1324L_uc011kgz.2_Missense_Mutation_p.W787G|KIAA1324L_uc003uif.2_Missense_Mutation_p.W653G	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	901						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGTTCATTCCACACATACAAG	0.383000														57			28		0	0	0.007291	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098843	92098843	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:92098843C>T	uc022ahe.1	-	0	853	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	285					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						cacatagattctgaagagcca	0.433000														26			17		0	0	0.006122	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927012	43927012	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:43927012C>T	uc010yny.2	+	7	998	c.915C>T	c.(913-915)acC>acT	p.T305T	PLEKHH2_uc002rte.3_Silent_p.T305T|PLEKHH2_uc002rtf.3_Silent_p.T304T	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	305						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCACATCCACCCTCTCCAGTC	0.512000														248			106		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179649020	179649020	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179649020G>A	uc021vsy.1	-	15	2777	c.2552C>T	c.(2551-2553)tCt>tTt	p.S851F	TTN_uc021vsz.1_Missense_Mutation_p.S805F|TTN_uc021vta.1_Missense_Mutation_p.S805F|TTN_uc021vtb.1_Missense_Mutation_p.S805F|TTN_uc002unb.2_Missense_Mutation_p.S851F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	851							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V850I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTGAGCAGAAGATGTGGC	0.473000														24			13		0	0	0.001368	0	0
RBM24	221662	broad.mit.edu	37	6	17292259	17292259	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:17292259G>A	uc003nbz.4	+	3	624	c.620G>A	c.(619-621)gGg>gAg	p.G207E	RBM24_uc003nby.4_3'UTR|RBM24_uc011dix.2_Missense_Mutation_p.G149E|RBM24_uc003nca.3_Missense_Mutation_p.G162E|RBM24_uc011diy.2_Missense_Mutation_p.G121R|RBM24_uc011diz.2_Missense_Mutation_p.G106R	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	207	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			GCGGCACCTGGGACAgctgcc	0.622000														24			6		0	0	0.001168	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839346	100839346	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:100839346G>A	uc003uyc.3	-	6	1074	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	MOGAT3_uc010lhr.3_Missense_Mutation_p.P235L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	303					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCTCGGTGGGGTGGAGGCGC	0.667000														5			7		0	0	0.001984	0	0
LARS	51520	broad.mit.edu	37	5	145500056	145500056	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:145500056G>A	uc003lnx.1	-	30	3441	c.3203C>T	c.(3202-3204)tCc>tTc	p.S1068F	LARS_uc003lnw.1_Missense_Mutation_p.S226F|LARS_uc011dbq.1_Missense_Mutation_p.S1022F|LARS_uc011dbr.1_Missense_Mutation_p.S1014F|LARS_uc011dbs.1_Missense_Mutation_p.S1041F	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	1068					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAGAGAAACGGACACACCAGG	0.428000														48			39		0	0	0.007835	0	0
LRRK2	120892	broad.mit.edu	37	12	40677810	40677810	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:40677810G>A	uc001rmg.4	+	18	2496	c.2375G>A	c.(2374-2376)aGg>aAg	p.R792K	LRRK2_uc001rmh.1_Missense_Mutation_p.R414K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	792					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGCTCTTAAGGAGGCTGGCC	0.443000														59			27		0	0	0.007291	0	0
DENND3	22898	broad.mit.edu	37	8	142146754	142146754	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:142146754C>T	uc003yvy.3	+	1	287	c.9C>T	c.(7-9)tcC>tcT	p.S3S	DENND3_uc003yvw.1_Silent_p.S16S|DENND3_uc003yvx.3_Silent_p.S83S|DENND3_uc010mep.3_Silent_p.S16S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	3										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)			GGATGCGCTCCTTGAGAAAGA	0.612000														33			4		0	0	0.000248	0	0
MORC1	27136	broad.mit.edu	37	3	108725901	108725901	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:108725901G>A	uc003dxl.3	-	17	1829	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	MORC1_uc011bhn.2_Intron	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	581					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAGGCAGGTGGAAGTGACAGT	0.388000														41			19		0	0	0.001882	0	0
NRXN1	9378	broad.mit.edu	37	2	50464101	50464101	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:50464101C>T	uc021vhh.1	-	16	4293	c.3372G>A	c.(3370-3372)acG>acA	p.T1124T	NRXN1_uc010fbp.3_Silent_p.T89T|NRXN1_uc002rxb.4_Silent_p.T796T|NRXN1_uc021vhg.1_Silent_p.T1164T|NRXN1_uc021vhi.1_Silent_p.T1160T|NRXN1_uc021vhj.1_Silent_p.T1120T|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1124					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGATATATGTCGTCCCAGCTG	0.408000														47			19		0	0	0.002299	0	0
HTT	3064	broad.mit.edu	37	4	3237335	3237335	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:3237335C>T	uc021xkv.1	+	62	8760	c.8615C>T	c.(8614-8616)tCc>tTc	p.S2872F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2872					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCCACCCCCTCCATCATTTAC	0.577000														66			6		0	0	0.004482	0	0
PAK4	10298	broad.mit.edu	37	19	39667319	39667319	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:39667319C>T	uc002okj.1	+	8	1910	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A	PAK4_uc002okl.1_Silent_p.A483A|PAK4_uc002okn.1_Silent_p.A483A|PAK4_uc002okm.1_Silent_p.A330A|PAK4_uc002oko.1_Silent_p.A330A|PAK4_uc002okp.1_Silent_p.A393A	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	483	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			ACTGGATGGCCCCAGAGCTCA	0.647000														96			34		0	0	0.004289	0	0
BSN	8927	broad.mit.edu	37	3	49701892	49701892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49701892G>A	uc003cxe.4	+	8	11759	c.11645G>A	c.(11644-11646)gGg>gAg	p.G3882E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3882					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGAACCCCAGGGGCTCCCGCC	0.622000														74			30		0	0	0.001786	0	0
SCFD1	23256	broad.mit.edu	37	14	31144256	31144256	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:31144256T>G	uc001wqm.1	+	13	1251	c.1227T>G	c.(1225-1227)gtT>gtG	p.V409V	SCFD1_uc001wqn.1_Silent_p.V342V|SCFD1_uc010tpg.1_Silent_p.V350V|SCFD1_uc010tph.1_Silent_p.V224V|SCFD1_uc010amf.1_Silent_p.V224V|SCFD1_uc010tpi.1_Silent_p.V317V|SCFD1_uc010amd.1_Silent_p.V241V	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	409					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCACTGCTGTTTTAGAACATA	0.303000														27			25		0	0	0.008361	0	0
SYT16	83851	broad.mit.edu	37	14	62536400	62536400	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:62536400C>T	uc001xfu.1	+	1	800	c.603C>T	c.(601-603)tcC>tcT	p.S201S	SYT16_uc010tsd.1_Silent_p.S201S	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	201										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGAGATTTCCGTGTCCCGGT	0.483000														47			40		0	0	0.002522	0	0
DNAH3	55567	broad.mit.edu	37	16	20975684	20975684	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:20975684G>A	uc010vbe.2	-	52	9522	c.9522C>T	c.(9520-9522)acC>acT	p.T3174T	DNAH3_uc010vbd.2_Silent_p.T609T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3174	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAAACGGGTTGTGATGT	0.453000														50			31		0	0	0.008361	0	0
CD163	9332	broad.mit.edu	37	12	7637816	7637816	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:7637816G>A	uc001qsz.3	-	10	2783	c.2655C>T	c.(2653-2655)tcC>tcT	p.S885S	CD163_uc001qta.3_Silent_p.S885S|CD163_uc009zfw.2_Silent_p.S918S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	885	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACATGGGAATGGACATGGCCT	0.547000														35			21		0	0	0.001523	0	0
EML4	27436	broad.mit.edu	37	2	42531667	42531667	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:42531667T>G	uc002rsi.3	+	16	2205	c.1943T>G	c.(1942-1944)gTg>gGg	p.V648G	EML4_uc010fap.3_Missense_Mutation_p.V590G|EML4_uc002rsj.3_Missense_Mutation_p.V337G|EML4_uc010faq.3_Intron|EML4_uc010ynv.2_5'UTR	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	648					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCACAGTGGTGGCCATAGGA	0.468000			T	ALK	NSCLC									46			54		0	0	0.003610	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23563366	23563366	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrY:23563366C>T	uc004fun.1	-	0		c.83G>A								Homo sapiens RNA binding motif protein, Y-linked, family 2, member E pseudogene (RBMY2EP), non-coding RNA.																		GGGTTACCTTCTGATATGGGA	0.358000														0			9		0	0	0.006214	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974720	21974720	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:21974720G>C	uc003zpk.3	-	0	413	c.107C>G	c.(106-108)gCg>gGg	p.A36G	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Missense_Mutation_p.A36G|CDKN2A_uc010miu.3_Missense_Mutation_p.A36G|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	36					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.A36T(3)|p.G35E(3)|p.G35fs*13(2)|p.V28_V51del(2)|p.G35R(2)|p.0(1)|p.A36fs*8(1)|p.G35V(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GTTGGGCAGCGCCCCCGCCTC	0.726000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				79			10		0	0	0.006320	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578376	2578376	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2578376C>T	uc010uwc.2	+	6	954	c.857C>T	c.(856-858)cCc>cTc	p.P286L	AMDHD2_uc002cqp.3_Missense_Mutation_p.P286L|AMDHD2_uc002cqq.3_Missense_Mutation_p.P286L|AMDHD2_uc010uwd.2_Missense_Mutation_p.P50L	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	286					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CGTGCCCATCCCCAGGGTAAG	0.662000														24			19		0	0	0.001882	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176192	72176192	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:72176192C>T	uc001xms.3	+	14	4443	c.4082C>T	c.(4081-4083)cCc>cTc	p.P1361L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P1340L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P1340L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P1361L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.P815L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1361	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAGTGGCACCCCTATGGCAC	0.592000														23			15		0	0	0.003163	0	0
DDI1	414301	broad.mit.edu	37	11	103907797	103907797	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:103907797C>T	uc001phr.2	+	0	490	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	83					proteolysis		aspartic-type endopeptidase activity	p.P82T(1)|p.R83L(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TGTGGGACCTCGGGCTCCAGG	0.612000														70			45		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	38996449	38996449	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:38996449A>T	uc002oit.3	+	53	8534	c.8404A>T	c.(8404-8406)Aaa>Taa	p.K2802*	RYR1_uc002oiu.3_Nonsense_Mutation_p.K2802*|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2802	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)	ACCCCAGGACAAAGAGATTTA	0.577000														18			8		0	0	0.004482	0	0
TPRN	286262	broad.mit.edu	37	9	140093724	140093725	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:140093724_140093725CC>TT	uc004clt.3	-	0	1439_1440	c.1439_1440GG>AA	c.(1438-1440)agg>aAA	p.R480K	TPRN_uc004clu.3_Missense_Mutation_p.R480K	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	480					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGTGCAGAGGCCTGGCAGGGTG	0.653000														29			19		0	0	0.004672	0	0
ZNF670	93474	broad.mit.edu	37	1	247200784	247200784	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:247200784G>A	uc001icd.2	-	3	1354	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Silent_p.S378S	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S379F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GCTTTCGAAGGGAACTGGAAC	0.378000														76			29		0	0	0.007291	0	0
RNF122	79845	broad.mit.edu	37	8	33406360	33406360	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:33406360G>A	uc003xjo.1	-	5	781	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	127						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding	p.R127C(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)		CAGACACAGCGAACTTCCAGC	0.498000														120			60		0	0	0.003610	0	0
CDH1	999	broad.mit.edu	37	16	68847364	68847364	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:68847364C>T	uc002ewg.1	+	8	1410	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Intron	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	429	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(7)|p.?(1)|p.N428D(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCACAAATCCAGTGAACAAC	0.473000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					165			52		0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175046794	175046794	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:175046794G>A	uc001gkl.1	+	1	353	c.240G>A	c.(238-240)gaG>gaA	p.E80E	TNN_uc010pmx.1_Silent_p.E80E	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	80					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGGCCAGGGAGGAACAGAACA	0.607000														15			34		0	0	0.006999	0	0
APAF1	317	broad.mit.edu	37	12	99060005	99060005	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:99060005T>C	uc001tfz.3	+	8	1809	c.1232T>C	c.(1231-1233)gTt>gCt	p.V411A	APAF1_uc001tfy.3_Missense_Mutation_p.V400A|APAF1_uc001tga.3_Missense_Mutation_p.V400A|APAF1_uc001tgb.3_Missense_Mutation_p.V411A|APAF1_uc001tgc.3_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	411	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ACTGAAGAAGTTGAAGACATA	0.348000														86			27		0	0	0.001786	0	0
NALCN	259232	broad.mit.edu	37	13	101890118	101890118	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:101890118G>A	uc001vox.1	-	11	1611	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	NALCN_uc001voy.3_Silent_p.F189F|NALCN_uc001voz.2_Silent_p.F474F|NALCN_uc001vpa.2_Silent_p.F474F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	474						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAAGTACGTGAATTGTGAAT	0.303000														113			87		0	0	0.003610	0	0
SCUBE2	57758	broad.mit.edu	37	11	9111275	9111275	+	Missense_Mutation	SNP	C	T	T	rs149203158		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:9111275C>T	uc001mhi.2	-	1	310	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	SCUBE2_uc001mhj.2_Missense_Mutation_p.G79R	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	79	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CTGCCTTCCCCTTGGTAGCCA	0.577000														41			42		0	0	0.002222	0	0
APOB	338	broad.mit.edu	37	2	21224983	21224983	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:21224983T>G	uc002red.3	-	28	13439	c.13311A>C	c.(13309-13311)tcA>tcC	p.S4437S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4437					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAACTTGACTTGAGAGTTGGG	0.388000														462			218		0	0	0.003610	0	0
CLPS	1208	broad.mit.edu	37	6	35763630	35763630	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:35763630C>T	uc003ole.2	-	2	141	c.85_splice	c.e2-1	p.E29_splice	CLPS_uc021yyz.1_Splice_Site_p.E15_splice|CLPS_uc003olf.2_Intron	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	29					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						TCACCGTTCTCCTGCCAGGAG	0.597000														149			29		0	0	0.002445	0	0
SKIV2L	6499	broad.mit.edu	37	6	31928457	31928457	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31928457C>T	uc003nyn.1	+	5	873	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S	RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P4S|SKIV2L_uc011dov.1_Intron	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	162						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GATGGATGAACCCACCATAAC	0.527000														772			76		0	0	0.003610	0	0
SLC22A11	55867	broad.mit.edu	37	11	64337277	64337277	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:64337277C>T	uc001oai.3	+	8	1910	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SLC22A11_uc009ypq.3_Silent_p.L404L	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	512					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGTTCTTCCTCCCGGAGACCC	0.622000														7			31		0	0	0.002445	0	0
PRC1	9055	broad.mit.edu	37	15	91512731	91512732	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:91512731_91512732GG>AA	uc002bqm.3	-	12	1851_1852	c.1694_1695CC>TT	c.(1693-1695)ccc>cTT	p.P565L	PRC1_uc002bqn.3_Missense_Mutation_p.P565L|PRC1_uc002bqo.3_Intron|PRC1_uc010uqs.2_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	565	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TGCGCTGGAGGGGGGCCGAGCC	0.540000														253			153		0	0	0.004672	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916189	86916189	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:86916189G>A	uc003hpk.3	+	8	1831	c.1382G>A	c.(1381-1383)aGg>aAg	p.R461K	ARHGAP24_uc003hpl.3_Missense_Mutation_p.R366K|ARHGAP24_uc010ikf.3_Missense_Mutation_p.R376K|ARHGAP24_uc003hpm.3_Missense_Mutation_p.R368K	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	461					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CAGGCCAGAAGGAGCTCTTCA	0.517000														13			18		0	0	0.004990	0	0
TMEM68	137695	broad.mit.edu	37	8	56663611	56663611	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:56663611A>T	uc003xsg.1	-	2	668	c.599T>A	c.(598-600)gTt>gAt	p.V200D	TMEM68_uc003xsh.1_Missense_Mutation_p.V200D	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Homo sapiens transmembrane protein 68 (TMEM68), mRNA.	200						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			GGCTTCTCGAACTCCACCTGG	0.413000														93			18		0	0	0.007413	0	0
GLI2	2736	broad.mit.edu	37	2	121708851	121708851	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:121708851C>T	uc010flp.3	+	2	317	c.287C>T	c.(286-288)tCt>tTt	p.S96F	GLI2_uc010yyu.1_Missense_Mutation_p.S96F|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_5'UTR|GLI2_uc002tmw.1_Missense_Mutation_p.S96F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	96					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGTCATCTCTGACATCTCC	0.642000														65			37		0	0	0.008740	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674275	48674275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:48674275G>A	uc002irk.1	+	15	3621	c.3249G>A	c.(3247-3249)atG>atA	p.M1083I	CACNA1G_uc002iri.1_Missense_Mutation_p.M1083I|CACNA1G_uc002irj.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irl.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irm.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irn.1_Missense_Mutation_p.M1060I|CACNA1G_uc002iro.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irp.1_Missense_Mutation_p.M1083I|CACNA1G_uc002irq.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irr.1_Missense_Mutation_p.M1083I|CACNA1G_uc002irs.1_Missense_Mutation_p.M1083I|CACNA1G_uc002irt.1_Missense_Mutation_p.M1083I|CACNA1G_uc002iru.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irv.1_Missense_Mutation_p.M1083I|CACNA1G_uc002irw.1_Missense_Mutation_p.M1060I|CACNA1G_uc002irx.1_Missense_Mutation_p.M996I|CACNA1G_uc002iry.1_Missense_Mutation_p.M996I|CACNA1G_uc002isg.1_Missense_Mutation_p.M996I|CACNA1G_uc002ish.1_Missense_Mutation_p.M996I|CACNA1G_uc002isi.1_Missense_Mutation_p.M973I|CACNA1G_uc002irz.1_Missense_Mutation_p.M996I|CACNA1G_uc002isa.1_Missense_Mutation_p.M996I|CACNA1G_uc002isd.1_Missense_Mutation_p.M996I|CACNA1G_uc002isb.1_Missense_Mutation_p.M996I|CACNA1G_uc002isc.1_Missense_Mutation_p.M996I|CACNA1G_uc002ise.1_Missense_Mutation_p.M996I|CACNA1G_uc002isf.1_Missense_Mutation_p.M996I|CACNA1G_uc002isj.3_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1083					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)	CCCACGAGATGAAGTCACCGG	0.682000														3			3		0	0	0.004672	0	0
OSR1	130497	broad.mit.edu	37	2	19553163	19553163	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:19553163C>T	uc002rdc.3	-	1	707	c.404G>A	c.(403-405)gGt>gAt	p.G135D		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	135					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				CTCCCCGCGACCGAGCTTGGC	0.637000														65			25		0	0	0.004656	0	0
OR8H3	390152	broad.mit.edu	37	11	55890068	55890068	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55890068T>A	uc001nii.1	+	0	220	c.220T>A	c.(220-222)Tac>Aac	p.Y74N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGACCTCAGTTACTCAACTGT	0.448000														463			89		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144946741	144946741	+	Silent	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:144946741G>T	uc003zaa.1	-	0	694	c.681C>A	c.(679-681)gcC>gcA	p.A227A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGCAGCAAGGCTAGCCCCG	0.667000														24			5		1.23904e-05	1.84731e-05	0.000602	1	0
LRFN2	57497	broad.mit.edu	37	6	40400350	40400350	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:40400350G>A	uc003oph.1	-	1	968	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	168						cell junction|integral to membrane|postsynaptic membrane		p.S168S(1)		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)					GCGTCGCACGGAGTCCCACGG	0.607000														112			28		0	0	0.006320	0	0
SFTPD	6441	broad.mit.edu	37	10	81697941	81697941	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:81697941G>A	uc001kbh.3	-	7	838	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	265	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTGCTGTCTTGAAAATCTTCT	0.542000														36			20		0	0	0.001523	0	0
CNGA3	1261	broad.mit.edu	37	2	99013380	99013380	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:99013380G>A	uc010fij.3	+	7	1900	c.1759G>A	c.(1759-1761)Gat>Aat	p.D587N	CNGA3_uc002syt.3_Missense_Mutation_p.D583N|CNGA3_uc002syu.3_Missense_Mutation_p.D565N			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	583					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTCAAAGGACGATCTCATGGA	0.562000														31			16		0	0	0.003163	0	0
ANKMY1	51281	broad.mit.edu	37	2	241459909	241459909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:241459909C>T	uc010fzd.1	-	8	1999	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	ANKMY1_uc002vzb.1_Missense_Mutation_p.R297Q|ANKMY1_uc002vzc.1_Missense_Mutation_p.R395Q|ANKMY1_uc002vyz.1_Missense_Mutation_p.R536Q|ANKMY1_uc002vza.1_Missense_Mutation_p.R395Q|ANKMY1_uc002vzd.1_Missense_Mutation_p.R395Q	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	536							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GTCCGCGCCCCGGCGCAGCAG	0.697000														12			13		0	0	0.001855	0	0
COL28A1	340267	broad.mit.edu	37	7	7457497	7457497	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:7457497C>T	uc003src.1	-	26	2246	c.2129G>A	c.(2128-2130)gGa>gAa	p.G710E	COL28A1_uc011jxe.1_Missense_Mutation_p.G393E|COL28A1_uc003srd.3_Missense_Mutation_p.G265E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	710					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)		TACTTTAATTCCCTGTGATCC	0.463000														177			17		0	0	0.007413	0	0
SNRNP200	23020	broad.mit.edu	37	2	96953256	96953256	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:96953256G>A	uc002svu.3	-	25	3537	c.3405C>T	c.(3403-3405)ctC>ctT	p.L1135L	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1135	SEC63 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTTCCTCAGGGAGTTTCCGGA	0.517000														49			30		0	0	0.007291	0	0
TINAGL1	64129	broad.mit.edu	37	1	32048836	32048836	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:32048836A>G	uc001bta.3	+	3	587	c.461A>G	c.(460-462)aAc>aGc	p.N154S	TINAGL1_uc010ogj.2_Intron|TINAGL1_uc010ogk.1_Missense_Mutation_p.N154S|TINAGL1_uc021oko.1_Missense_Mutation_p.N49S	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	154					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AACCAGGGCAACTATGGGTGA	0.567000														35			18		0	0	0.007413	0	0
BDKRB2	624	broad.mit.edu	37	14	96707723	96707723	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:96707723A>C	uc010avm.1	+	2	1254	c.1058A>C	c.(1057-1059)aAa>aCa	p.K353T	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.K326T|BDKRB2_uc001yfg.2_Missense_Mutation_p.K353T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	353					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GTGTGCCAGAAAGGGGGCTGC	0.572000														26			8		0	0	0.008291	0	0
KCNMB1	3779	broad.mit.edu	37	5	169810805	169810806	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:169810805_169810806CC>TT	uc003maq.1	-	2	583_584	c.183_184GG>AA	c.(181-186)agggac>agAAac	p.D62N	KCNIP1_uc003map.3_Intron|KCNMB1_uc003mar.3_Missense_Mutation_p.D62N	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	62					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TCCTCCTGGTCCCTGATGTTGG	0.579000														28			20		0	0	0.004672	0	0
IFIH1	64135	broad.mit.edu	37	2	163134116	163134116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:163134116C>T	uc002uce.3	-	9	2075	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	618					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	p.R618*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATCTATCATTCGAATTGTGTC	0.358000														33			49		0	0	0.003610	0	0
NCOR1	9611	broad.mit.edu	37	17	15961014	15961014	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:15961014G>A	uc002gpo.3	-	39	6475	c.6206C>T	c.(6205-6207)tCc>tTc	p.S2069F	NCOR1_uc002gpn.3_Missense_Mutation_p.S1966F|NCOR1_uc002gpl.3_Missense_Mutation_p.S84F|NCOR1_uc002gpm.3_Missense_Mutation_p.S589F|NCOR1_uc010vwb.2_Missense_Mutation_p.S653F|NCOR1_uc010coy.3_Missense_Mutation_p.S977F|NCOR1_uc010vwc.2_Missense_Mutation_p.S879F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2069	ID1 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGTCTGCGAGGAAACTTGATT	0.388000														19			24		0	0	0.003954	0	0
PDE7B	27115	broad.mit.edu	37	6	136429878	136429878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:136429878G>A	uc003qgp.3	+	2	395	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R83Q	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	31					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGATATACGACTAAGGGGT	0.463000														42			39		0	0	0.006230	0	0
DNER	92737	broad.mit.edu	37	2	230453181	230453181	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:230453181C>T	uc002vpv.3	-	2	756	c.609G>A	c.(607-609)ggG>ggA	p.G203G	DNER_uc010zly.1_5'Flank	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	203					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AACTGGCATTCCCACAGGCAA	0.413000														28			13		0	0	0.003163	0	0
LSAMP	4045	broad.mit.edu	37	3	115571453	115571453	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:115571453C>T	uc011bis.2	-	3	1033	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	LSAMP_uc003ebs.3_Missense_Mutation_p.E176K	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	176	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCTTCTCCTTCAAATTCCCTT	0.413000														41			30		0	0	0.001786	0	0
ADCY6	112	broad.mit.edu	37	12	49162479	49162479	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:49162479C>T	uc001rsh.4	-	20	4062	c.3402G>A	c.(3400-3402)caG>caA	p.Q1134Q	ADCY6_uc001rsi.4_Silent_p.Q1081Q|ADCY6_uc001rsj.4_Silent_p.Q1134Q	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1134					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CAGCTAGAACCTGGTACAGGT	0.622000														44			21		0	0	0.002299	0	0
C10orf71	118461	broad.mit.edu	37	10	50531928	50531928	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:50531928C>T	uc021pqb.1	+	0	1338	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	C10orf71_uc021pqa.1_Silent_p.L445L|C10orf71_uc021pqc.1_Silent_p.L446L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	446										endometrium(1)	1						TCAGTAAGCTCCTGACCCCCA	0.522000														25			18		0	0	0.006122	0	0
ABCA13	154664	broad.mit.edu	37	7	48317811	48317811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:48317811G>A	uc003toq.2	+	17	7044	c.7020G>A	c.(7018-7020)atG>atA	p.M2340I		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2340					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCTAATGAAAAGTTCAT	0.303000														16			10		0	0	0.008291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755006	140755006	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140755006C>T	uc003ljy.2	+	0	1356	c.1356C>T	c.(1354-1356)ttC>ttT	p.F452F	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_uc011dau.2_Silent_p.F452F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	454	Cadherin 4.				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)			CGCCCACCTTCCCCCATTCAT	0.527000														107			91		0	0	0.003610	0	0
EDEM2	55741	broad.mit.edu	37	20	33725685	33725685	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:33725685G>A	uc002xbo.2	-	4	588	c.488C>T	c.(487-489)cCa>cTa	p.P163L	EDEM2_uc010zuv.1_Missense_Mutation_p.P122L|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.P126L|EDEM2_uc010zut.1_Missense_Mutation_p.P122L|EDEM2_uc002xbn.2_Missense_Mutation_p.P11L|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	163					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGTCTTACCTGGGAGGAGTTT	0.562000														64			22		0	0	0.001882	0	0
abParts	0	broad.mit.edu	37	14	106406010	106406010	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:106406010C>T	uc021ser.1	-	3032		c.49865G>A								Parts of antibodies, mostly variable regions.																		ACACTGACCCCATGGGAGGCC	0.557000														11			13		0	0	0.001855	0	0
SLC34A1	6569	broad.mit.edu	37	5	176812796	176812796	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:176812796C>T	uc003mgk.4	+	1	158	c.54C>T	c.(52-54)gtC>gtT	p.V18V	SLC34A1_uc021yis.1_Silent_p.V18V	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	18					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTCCCAGTCCGTGGGGGGC	0.647000														26			29		0	0	0.002096	0	0
TPCN1	53373	broad.mit.edu	37	12	113717964	113717964	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:113717964A>G	uc001tux.3	+	15	1696	c.1522A>G	c.(1522-1524)Atc>Gtc	p.I508V	TPCN1_uc001tuw.3_Missense_Mutation_p.I436V|TPCN1_uc010syt.1_Missense_Mutation_p.I368V	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	436						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGGTATTAATATCCTTGTGAA	0.393000														54			16		0	0	0.008871	0	0
CCT5	22948	broad.mit.edu	37	5	10263337	10263337	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:10263337C>T	uc003jeq.3	+	9	1580	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	CCT5_uc011cmr.2_Missense_Mutation_p.P415L|CCT5_uc011cms.2_Missense_Mutation_p.P432L|CCT5_uc011cmt.2_Missense_Mutation_p.P377L	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	470					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.N469K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GGCATGAATCCCATCCAGACT	0.547000														69			25		0	0	0.003330	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003419	52003419	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:52003419C>T	uc002pwx.1	-	1	619	c.563G>A	c.(562-564)gGa>gAa	p.G188E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G70E|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	188	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GAACCAGGATCCATAAACAGG	0.542000														59			29		0	0	0.002445	0	0
HDAC7	51564	broad.mit.edu	37	12	48191223	48191223	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:48191223G>A	uc010slo.2	-	5	716	c.521C>T	c.(520-522)cCt>cTt	p.P174L	HDAC7_uc001rqj.4_Missense_Mutation_p.P174L|HDAC7_uc001rqk.4_Missense_Mutation_p.P157L|HDAC7_uc009zkv.1_Missense_Mutation_p.P135L	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	135	Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGGAACAGGAGGCAAAAAGCT	0.612000														72			29		0	0	0.002096	0	0
WDR75	84128	broad.mit.edu	37	2	190322059	190322059	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:190322059G>A	uc002uql.1	+	5	581	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	WDR75_uc002uqm.1_Missense_Mutation_p.R110Q|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	174						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GCTGCAGTACGGGAATTTTAC	0.254000														15			13		0	0	0.008871	0	0
NWD1	284434	broad.mit.edu	37	19	16875870	16875870	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:16875870G>A	uc002neu.4	+	9	2699	c.2277G>A	c.(2275-2277)cgG>cgA	p.R759R	NWD1_uc002net.4_Silent_p.R624R|NWD1_uc002nev.4_Silent_p.R553R|NWD1_uc021uqg.1_Silent_p.R624R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	759							ATP binding	p.A758T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTTCCTGCCGGGGCATCTCTG	0.607000														14			19		0	0	0.002780	0	0
CELF4	56853	broad.mit.edu	37	18	34846537	34846537	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:34846537G>A	uc002lae.2	-	8	1520	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	CELF4_uc021uix.1_Missense_Mutation_p.P373L|CELF4_uc021uiy.1_Missense_Mutation_p.P374L|CELF4_uc002lag.2_Missense_Mutation_p.P365L|CELF4_uc002laf.2_Missense_Mutation_p.P370L|CELF4_uc002lai.2_Missense_Mutation_p.P360L|CELF4_uc002lah.2_Missense_Mutation_p.P100L	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	375					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CTGCTGCAGGGGGTCCGCGGC	0.647000														2			3		0	0	0.000248	0	0
COL6A3	1293	broad.mit.edu	37	2	238296801	238296801	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:238296801G>A	uc002vwl.2	-	3	1021	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F	COL6A3_uc002vwo.2_Missense_Mutation_p.L40F|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.L40F|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.L246F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	246	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCATCAATAAGGAAAATAATG	0.378000														32			17		0	0	0.008871	0	0
PROKR2	128674	broad.mit.edu	37	20	5283349	5283349	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:5283349C>T	uc010zqw.2	-	1	500	c.492G>A	c.(490-492)cgG>cgA	p.R164R	PROKR2_uc010zqx.2_Silent_p.R164R|PROKR2_uc010zqy.2_Silent_p.R164R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	164			R -> Q (in KAL3).			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						GATAATTCATCCGTGGTTTCA	0.488000										HNSCC(71;0.22)				131			36		0	0	0.005524	0	0
RRP12	23223	broad.mit.edu	37	10	99141234	99141234	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:99141234G>A	uc001knf.3	-	11	1466	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	RRP12_uc009xvm.3_Silent_p.L161L|RRP12_uc010qou.2_Silent_p.L382L|RRP12_uc009xvn.3_Silent_p.L343L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	443						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CATTCCTTCAGGATCTCCTGC	0.597000														6			9		0	0	0.000978	0	0
ALOX5	240	broad.mit.edu	37	10	45924071	45924071	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:45924071G>A	uc001jce.3	+	6	939	c.840G>A	c.(838-840)ggG>ggA	p.G280G	ALOX5_uc009xmt.3_Silent_p.G280G|ALOX5_uc010qfg.2_Silent_p.G280G|ALOX5_uc021ppr.1_Silent_p.G280G	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	280	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGCAAGGGAACATTTTCA	0.552000														17			10		0	0	0.002450	0	0
GLIS3	169792	broad.mit.edu	37	9	3937169	3937169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:3937169G>A	uc003zhx.1	-	4	2444	c.1731C>T	c.(1729-1731)gcC>gcT	p.A577A	GLIS3_uc010mhf.1_5'UTR|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.A422A|GLIS3_uc003zhy.1_Silent_p.A355A|GLIS3_uc003zhz.1_Silent_p.A355A	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	422					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GCCTTGAAAAGGCCTTCTCGC	0.448000														61			26		0	0	0.005443	0	0
MYO1H	283446	broad.mit.edu	37	12	109879455	109879455	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:109879455G>A	uc010sxn.1	+	24	2526	c.2526G>A	c.(2524-2526)agG>agA	p.R842R	MYO1H_uc010sxo.1_Silent_p.R33R	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	33						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAATCTTCAGGGGAAGGAAAG	0.398000														31			6		0	0	0.001168	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255683	85255683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:85255683G>A	uc001szv.3	-	11	2414	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	SLC6A15_uc010sul.2_Missense_Mutation_p.R534C	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	641					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTTGAAGCGACGAACAATG	0.433000														107			32		0	0	0.001786	0	0
ZNF821	55565	broad.mit.edu	37	16	71895750	71895750	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:71895750G>A	uc010vmj.2	-	5	921	c.513C>T	c.(511-513)atC>atT	p.I171I	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_Silent_p.I21I|ZNF821_uc002fbf.3_Silent_p.I129I|ZNF821_uc021tlb.1_Silent_p.I171I|ZNF821_uc021tlc.1_Intron|ZNF821_uc002fbh.4_Silent_p.I129I|ZNF821_uc002fbg.4_Silent_p.I21I	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E171Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						CCTCCGAGTGGATTAAGAGGT	0.582000														58			25		0	0	0.003954	0	0
HARBI1	283254	broad.mit.edu	37	11	46637407	46637408	+	Missense_Mutation	DNP	GG	AA	AA	rs141436294		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:46637407_46637408GG>AA	uc001ncy.3	-	1	628_629	c.380_381CC>TT	c.(379-381)tcc>tTT	p.S127F	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	127						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						GAGCCTGAATGGAGGCTTCATC	0.520000														84			48		0	0	0.004672	0	0
CRTAC1	55118	broad.mit.edu	37	10	99770962	99770962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:99770962G>A	uc001kou.2	-	1	513	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	CRTAC1_uc001kov.3_Nonsense_Mutation_p.Q53*	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	53						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TAGTTGAGCTGGGTGGGATTA	0.547000														47			32		0	0	0.002445	0	0
TRIM65	201292	broad.mit.edu	37	17	73888544	73888544	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:73888544T>C	uc002jpx.3	-	2	584	c.548A>G	c.(547-549)aAg>aGg	p.K183R		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	183						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCTGAACTTGCCGGAGAC	0.642000														21			44		0	0	0.003610	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883951	105883951	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:105883951G>A	uc002tcq.3	-	11	2556	c.2472C>T	c.(2470-2472)ccC>ccT	p.P824P	TGFBRAP1_uc010fjc.3_Silent_p.P593P|TGFBRAP1_uc002tcr.4_Silent_p.P824P|LOC644617_uc002tcp.3_5'Flank	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCTCACAAAAGGGATTTTGGC	0.468000														46			34		0	0	0.003755	0	0
KIAA0317	9870	broad.mit.edu	37	14	75136688	75136688	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:75136688A>T	uc001xqb.3	-	13	2255	c.1750T>A	c.(1750-1752)Ttc>Atc	p.F584I	KIAA0317_uc010tut.1_Missense_Mutation_p.F423I	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	584	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TGGGCCAGGAAAGAGCGGGTG	0.517000														29			23		0	0	0.002780	0	0
DKK3	27122	broad.mit.edu	37	11	12023884	12023884	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:12023884C>T	uc010rcg.1	-	2	472	c.314G>A	c.(313-315)gGa>gAa	p.G105E	DKK3_uc010rcf.2_Missense_Mutation_p.G105E|DKK3_uc001mju.3_Missense_Mutation_p.G105E|DKK3_uc001mjv.3_Missense_Mutation_p.G105E|DKK3_uc001mjw.3_Missense_Mutation_p.G105E	NM_015881	NP_056965	Q9UBP4	DKK3_HUMAN	Homo sapiens dickkopf 3 homolog (Xenopus laevis) (DKK3), transcript variant 1, mRNA.	105					Wnt receptor signaling pathway|adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent	extracellular space		p.G105A(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GGTATTATTTCCAACCTTCGT	0.463000														28			22		0	0	0.002299	0	0
ZNF443	10224	broad.mit.edu	37	19	12541577	12541578	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:12541577_12541578GT>AA	uc002mtu.3	-	3	1606_1607	c.1408_1409AC>TT	c.(1408-1410)act>TTt	p.T470F		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	470					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCAGTATGAGTTGTTTCATGC	0.406000														24			19		0	0	0.004672	0	0
FAT4	79633	broad.mit.edu	37	4	126373044	126373044	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:126373044G>A	uc003ifj.4	+	8	10873	c.10873G>A	c.(10873-10875)Ggt>Agt	p.G3625S	FAT4_uc011cgp.2_Missense_Mutation_p.G1923S|FAT4_uc003ifi.1_Missense_Mutation_p.G1103S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3625					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATTATTATGGTAACTTGTT	0.443000														30			16		0	0	0.004007	0	0
HHATL	57467	broad.mit.edu	37	3	42738627	42738627	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:42738627G>A	uc003clw.3	-	8	1023	c.876C>T	c.(874-876)gcC>gcT	p.A292A	HHATL_uc003clx.3_Silent_p.A292A	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	292					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)		GGTTTGAATAGGCTAGGCCAG	0.627000														29			15		0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973808	120973808	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:120973808G>A	uc003eec.4	+	15	1648	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	STXBP5L_uc011bji.2_Missense_Mutation_p.G503E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	503					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTAGGAGAAGGAAAACAAACA	0.378000														30			7		0	0	0.004482	0	0
ANKMY2	57037	broad.mit.edu	37	7	16649313	16649313	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:16649313G>A	uc003sti.3	-	6	1068	c.824C>T	c.(823-825)cCt>cTt	p.P275L	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	275						cilium	zinc ion binding	p.F274V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCACAGTAAGGAAATTTTCT	0.393000														59			39		0	0	0.006230	0	0
KLHL38	340359	broad.mit.edu	37	8	124659227	124659227	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:124659227A>G	uc003yqs.1	-	1	1402	c.1378T>C	c.(1378-1380)Ttc>Ctc	p.F460L		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	460										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCATTTTGAACCACGAGTTT	0.433000														201			45		0	0	0.003214	0	0
OR7D2	162998	broad.mit.edu	37	19	9297116	9297116	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9297116G>A	uc002mkz.1	+	0	847	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	220					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCTTATTCACGAATTGCTTCA	0.463000														30			25		0	0	0.003954	0	0
TTC39C	125488	broad.mit.edu	37	18	21703897	21703897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:21703897C>T	uc002kuw.3	+	8	1738	c.1286C>T	c.(1285-1287)tCg>tTg	p.S429L	TTC39C_uc002kuu.3_Missense_Mutation_p.S368L	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	429							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GAACAGTTCTCGGTGAAAAAG	0.398000														7			8		0	0	0.004482	0	0
TRIM55	84675	broad.mit.edu	37	8	67086797	67086797	+	Missense_Mutation	SNP	C	T	T	rs149867342		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:67086797C>T	uc003xvv.3	+	9	1842	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	TRIM55_uc003xvu.3_3'UTR|TRIM55_uc003xvw.3_Missense_Mutation_p.S443F|TRIM55_uc003xvx.3_Missense_Mutation_p.S232F	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	539						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.S539F(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CATATCTTCTCCTTTTCCTGG	0.547000														229			32		0	0	0.002836	0	0
PFKFB2	5208	broad.mit.edu	37	1	207252345	207252345	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:207252345C>T	uc001hfh.3	+	14	1506	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	PFKFB2_uc010psc.2_Missense_Mutation_p.S368F|PFKFB2_uc010psd.2_Missense_Mutation_p.S259F	NM_001018053	NP_001018063	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 2, mRNA.	0	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TCCGCAGCGTCCCTCATGTTG	0.552000														200			60		0	0	0.003610	0	0
FLG2	388698	broad.mit.edu	37	1	152324716	152324716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:152324716C>T	uc001ezw.4	-	2	5619	c.5546G>A	c.(5545-5547)gGa>gAa	p.G1849E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1849							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGTCTGTCCATGAGTAGT	0.502000														175			56		0	0	0.003610	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377355	19377355	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:19377355G>A	uc002nmd.1	-	8	918	c.868C>T	c.(868-870)Cct>Tct	p.P290S	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	290						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GAGCAACCAGGGAAGGTGAGA	0.612000														25			21		0	0	0.008871	0	0
TDRD6	221400	broad.mit.edu	37	6	46660298	46660298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:46660298C>T	uc003oyj.3	+	0	4687	c.4433C>T	c.(4432-4434)gCt>gTt	p.A1478V	TDRD6_uc010jze.3_Missense_Mutation_p.A1478V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1478					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCAGGTATGCTCTCAGTGAA	0.348000														111			24		0	0	0.003330	0	0
BAI3	577	broad.mit.edu	37	6	69772857	69772857	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:69772857G>A	uc010kak.3	+	14	2641	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	BAI3_uc003pev.4_Missense_Mutation_p.V789M	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	789					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAATCATCGTGGTCACAAT	0.368000														2			31		0	0	0.002836	0	0
ZNF74	7625	broad.mit.edu	37	22	20760971	20760971	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:20760971C>T	uc010gsm.3	+	5	1860	c.1648C>T	c.(1648-1650)Cac>Tac	p.H550Y	ZNF74_uc002zsg.3_Missense_Mutation_p.H479Y|ZNF74_uc002zsh.3_Missense_Mutation_p.H550Y|ZNF74_uc002zsi.3_Missense_Mutation_p.H479Y|ZNF74_uc010gsn.3_Missense_Mutation_p.H479Y	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	550					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCAGAAAATCCACTCCGGGGA	0.562000														67			18		0	0	0.007413	0	0
CDON	50937	broad.mit.edu	37	11	125859626	125859626	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:125859626G>A	uc009zbw.3	-	14	2807	c.2679C>T	c.(2677-2679)caC>caT	p.H893H	CDON_uc001qdb.4_Silent_p.H270H|CDON_uc001qdc.4_Silent_p.H893H	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	893	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CTGGCTGCAGGTGGCCAATCA	0.368000														5			30		0	0	0.006320	0	0
SEMA3F	6405	broad.mit.edu	37	3	50219719	50219719	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:50219719G>A	uc003cyj.3	+	7	844	c.646G>A	c.(646-648)Gag>Aag	p.E216K	SEMA3F_uc003cyk.3_Missense_Mutation_p.E185K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	216	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		ACCCACAGATGAGGAGCTCTA	0.567000														46			23		0	0	0.001882	0	0
LRP5	4041	broad.mit.edu	37	11	68153959	68153959	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:68153959C>T	uc001ont.3	+	5	1266	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	397	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCGGGCCATCCGCAGGGCGT	0.637000														52			13		0	0	0.001855	0	0
ABCB5	340273	broad.mit.edu	37	7	20784994	20784994	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:20784994C>T	uc010kuh.3	+	25	3599	c.3362C>T	c.(3361-3363)cCa>cTa	p.P1121L	ABCB5_uc003suw.4_Missense_Mutation_p.P676L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	676					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGTGTGGTGCCATTAGATGAG	0.433000														57			28		0	0	0.008361	0	0
EP400	57634	broad.mit.edu	37	12	132471241	132471241	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:132471241C>T	uc001ujn.3	+	5	2264	c.2112C>T	c.(2110-2112)tcC>tcT	p.S704S	EP400_uc021rgq.1_Silent_p.S703S|EP400_uc001ujm.3_Silent_p.S704S|EP400_uc001ujj.2_Silent_p.S667S|EP400_uc001ujk.3_Silent_p.S740S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	740					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTCACTTCCCGGACCCCAG	0.592000														82			38		0	0	0.006230	0	0
DHX40	79665	broad.mit.edu	37	17	57650525	57650525	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:57650525C>T	uc002ixn.2	+	3	622	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	DHX40_uc010woe.2_Silent_p.L82L|DHX40_uc002ixo.1_Silent_p.L60L	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	159	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAACATATTCTGGGAGACCC	0.328000														60			119		0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187406	32187406	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32187406C>T	uc003obb.3	-	7	1612	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.L491L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	491	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTAGGTCCAGACAGGTGC	0.592000														504			64		0	0	0.003610	0	0
SLC39A14	23516	broad.mit.edu	37	8	22275267	22275267	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:22275267C>T	uc003xbq.4	+	7	1426	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	SLC39A14_uc011kzg.2_Silent_p.I417I|SLC39A14_uc003xbp.4_Silent_p.I417I|SLC39A14_uc011kzh.2_Silent_p.I417I	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	417						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTTTGGCATCCTGGCCGGCA	0.502000														64			24		0	0	0.002780	0	0
ENPP7	339221	broad.mit.edu	37	17	77705076	77705076	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:77705076C>T	uc002jxa.3	+	0	195	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	59					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R59*(2)		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)			CGCCATGGCCCGAGACGGGGT	0.632000														27			17		0	0	0.004990	0	0
MYCBP2	23077	broad.mit.edu	37	13	77817289	77817289	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:77817289G>A	uc021rks.1	-	16	2801	c.2534C>T	c.(2533-2535)cCa>cTa	p.P845L	MYCBP2_uc010aev.3_Missense_Mutation_p.P211L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCCGGGCACTGGGACAGCTAG	0.383000														27			17		0	0	0.006122	0	0
PRDX1	5052	broad.mit.edu	37	1	45980275	45980275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:45980275G>A	uc001coc.3	-	4	733	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	PRDX1_uc001cob.3_Missense_Mutation_p.R140W|PRDX1_uc001coa.3_Missense_Mutation_p.R140W|PRDX1_uc021omw.1_Missense_Mutation_p.R140W	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	140	Thioredoxin.				cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GTGATCTGCCGAAGAATACCC	0.443000														102			43		0	0	0.003610	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325516	150325516	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:150325516C>T	uc022apv.1	-	2	860	c.380G>A	c.(379-381)gGa>gAa	p.G127E	GIMAP6_uc003whn.3_Missense_Mutation_p.G57E|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	57							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATGCTGTTTCCTGTTGCACT	0.542000														127			95		0	0	0.003610	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182491	57182492	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:57182491_57182492CC>TT	uc003hbk.2	+	7	3214_3215	c.2823_2824CC>TT	c.(2821-2826)agccag>agTTag	p.Q942*	KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q935*|KIAA1211_uc011bzz.1_Nonsense_Mutation_p.Q852*|KIAA1211_uc003hbm.1_Nonsense_Mutation_p.Q828*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	942	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CGGCCAGCAGCCAGACCCCGGC	0.649000														30			6		0	0	0.004672	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562480	75562480	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:75562480C>T	uc002azs.2	+	17	2063	c.2022C>T	c.(2020-2022)ccC>ccT	p.P674P	DQ582071_uc002azu.1_5'Flank|DQ577530_uc010ulz.1_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	674										ovary(1)	1						AGGGTTCTCCCCATGACAACC	0.602000														81			21		0	0	0.001523	0	0
EPHA10	284656	broad.mit.edu	37	1	38184057	38184057	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:38184057C>T	uc009vvi.3	-	16	3100	c.3014G>A	c.(3013-3015)gGg>gAg	p.G1005E	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	1005						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCTGCACCCCCTGGCCCTG	0.662000														72			18		0	0	0.008871	0	0
PRKD2	25865	broad.mit.edu	37	19	47181848	47181848	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:47181848G>A	uc002pfh.3	-	16	2485	c.2143C>T	c.(2143-2145)Ccg>Tcg	p.P715S	PRKD2_uc010eks.3_Missense_Mutation_p.P118S|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Missense_Mutation_p.P558S|PRKD2_uc002pfi.3_Missense_Mutation_p.P715S|PRKD2_uc002pfj.3_Missense_Mutation_p.P715S|PRKD2_uc010xye.2_Missense_Mutation_p.P715S|PRKD2_uc002pfk.3_Missense_Mutation_p.P558S	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	715	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGGTAGGCCGGCGTGCCCACC	0.627000														29			24		0	0	0.002780	0	0
KRT25	147183	broad.mit.edu	37	17	38910165	38910165	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:38910165G>A	uc002hve.3	-	2	677	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	206	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GTTTCATACTGAATCTCCAGA	0.448000														57			84		0	0	0.003610	0	0
C20orf79	140856	broad.mit.edu	37	20	18794854	18794854	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:18794854G>A	uc002wrk.3	+	0	485	c.395G>A	c.(394-396)gGa>gAa	p.G132E	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	132	SCP2.						sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						TTCCTTGCCGGAAAGTTCAAA	0.473000														66			17		0	0	0.002299	0	0
KLHDC7B	113730	broad.mit.edu	37	22	50987593	50987593	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:50987593G>A	uc003bmi.3	+	0	1132	c.998G>A	c.(997-999)cGg>cAg	p.R333Q		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	333								p.A333A(1)|p.A333V(1)		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)		AACACCTGGCGGCCCCTGACC	0.706000														58			18		0	0	0.006122	0	0
CPNE9	151835	broad.mit.edu	37	3	9771272	9771272	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:9771272G>A	uc021wst.1	+	20	1729	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	CPNE9_uc003bsd.3_Missense_Mutation_p.E519K|BRPF1_uc003bse.3_5'Flank|BRPF1_uc003bsf.3_5'Flank|BRPF1_uc003bsg.3_5'Flank|BRPF1_uc011ati.2_5'Flank	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	520										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TGTGCTGGCCGAGATCCCGGA	0.637000														42			23		0	0	0.003954	0	0
KCNK17	89822	broad.mit.edu	37	6	39271779	39271779	+	Silent	SNP	G	A	A	rs140940240	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:39271779G>A	uc003ooo.3	-	3	783	c.642C>T	c.(640-642)ttC>ttT	p.F214F	KCNK17_uc003oop.3_Silent_p.F214F	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	214						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGATGAAGGCGAAGTAGAAGC	0.632000														111			26		0	0	0.007291	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625832	111625832	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:111625832G>A	uc004bdj.1	+	0	1230	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	410						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCACTTCAGGGTTTCCAAC	0.562000														6			50		0	0	0.003610	0	0
HNRNPL	3191	broad.mit.edu	37	19	39329542	39329542	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:39329542C>T	uc021uuh.1	-	8	1358	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	HNRNPL_uc002ojj.1_Silent_p.L105L|HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojk.3_Silent_p.L105L|HNRNPL_uc002ojl.3_Silent_p.L105L|HNRNPL_uc021uui.1_Silent_p.L316L|HNRNPL_uc002ojo.1_Silent_p.L27L|HNRNPL_uc002ojp.1_Silent_p.L105L	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	449	RRM 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACCAGACATTCAGCTTCTGCC	0.597000														47			33		0	0	0.004878	0	0
SCAND3	114821	broad.mit.edu	37	6	28540061	28540061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28540061C>T	uc003nlo.3	-	3	4223	c.3605G>A	c.(3604-3606)gGa>gAa	p.G1202E		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1202					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ccacaaatttcctatgcgtgg	0.328000														40			6		0	0	0.001168	0	0
CASR	846	broad.mit.edu	37	3	121976007	121976007	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:121976007C>T	uc003eew.4	+	2	703	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	CASR_uc003eev.4_Missense_Mutation_p.P89S	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	89					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.P89P(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCCCTTCTTCCCAACTTGAC	0.448000														80			26		0	0	0.004656	0	0
DNAH10	196385	broad.mit.edu	37	12	124298047	124298047	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:124298047G>A	uc001uft.4	+	18	3152	c.3127G>A	c.(3127-3129)Gat>Aat	p.D1043N	DNAH10_uc010tav.1_Missense_Mutation_p.D585N|DNAH10_uc010taw.1_Missense_Mutation_p.D528N	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1043	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTAATTAAGGATGAGCATTG	0.438000														43			13		0	0	0.001368	0	0
MST1P9	11223	broad.mit.edu	37	1	17085527	17085527	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:17085527G>A	uc010ock.2	-	9	1164	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCAGGGTTAGGGCCCTGGCGG	0.652000														45			5		0	0	0.000978	0	0
IGSF3	3321	broad.mit.edu	37	1	117122046	117122046	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:117122046G>A	uc001egq.1	-	10	4067	c.3362C>T	c.(3361-3363)tCa>tTa	p.S1121L	IGSF3_uc001egr.1_Missense_Mutation_p.S1101L	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1101						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GATGGGGGCTGACTCCTCCTC	0.537000														59			29		0	0	0.002096	0	0
DBC1	1620	broad.mit.edu	37	9	121929406	121929406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:121929406C>T	uc004bkc.2	-	7	2698	c.2242G>A	c.(2242-2244)Gag>Aag	p.E748K		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	748					cell cycle arrest|cell death	cytoplasm	protein binding	p.T747T(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTGAGGATCTCCGTGTTGTAC	0.512000														93			62		0	0	0.003610	0	0
GABRR1	2569	broad.mit.edu	37	6	89910935	89910935	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:89910935A>T	uc003pna.2	-	2	678	c.223T>A	c.(223-225)Tca>Aca	p.S75T	GABRR1_uc011dzv.1_Missense_Mutation_p.S52T	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	75					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S69T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGCTGTTCTGACTTTGTCAGA	0.488000														49			28		0	0	0.001786	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894788	48894788	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:48894788C>T	uc003gyt.3	-	6	586	c.383_splice	c.e6+1	p.R128_splice	OCIAD2_uc003gyu.3_Intron	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	128						endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AGATTACAAACCTGTTATGCT	0.328000														297			50		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63410326	63410327	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:63410326_63410327GG>AA	uc022byb.1	-	0	2840_2841	c.2840_2841CC>TT	c.(2839-2841)tcc>tTT	p.S947F	FAM123B_uc004dvo.3_Missense_Mutation_p.S947F	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	947					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CAGTATAGAGGGAAAGGGGACT	0.589000														1			6		0	0	0.004672	0	0
ZNF48	197407	broad.mit.edu	37	16	30410152	30410153	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:30410152_30410153CC>TT	uc002dya.2	+	1	1957_1958	c.1581_1582CC>TT	c.(1579-1584)gcccct>gcTTct	p.P528S	ZNF48_uc021tgi.1_Missense_Mutation_p.P528S|ZNF48_uc021tgj.1_Missense_Mutation_p.P405S|ZNF48_uc021tgk.1_Missense_Mutation_p.P528S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	528	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TACCCATGGCCCCTCGACCCCG	0.658000														26			22		0	0	0.004672	0	0
COL12A1	1303	broad.mit.edu	37	6	75858113	75858113	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:75858113C>T	uc021zbv.1	-	20	4283	c.4248G>A	c.(4246-4248)aaG>aaA	p.K1416K	COL12A1_uc021zbw.1_Silent_p.K252K|COL12A1_uc003phs.3_Silent_p.K1416K|COL12A1_uc003pht.3_Silent_p.K252K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1416	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTATTCCACCTTATATCGAT	0.433000														20			18		0	0	0.004990	0	0
UMODL1	89766	broad.mit.edu	37	21	43504239	43504239	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:43504239C>T	uc002zag.1	+	2	365	c.365C>T	c.(364-366)cCc>cTc	p.P122L	UMODL1_uc002zad.1_Missense_Mutation_p.P50L|UMODL1_uc002zae.1_Missense_Mutation_p.P50L|UMODL1_uc002zaf.1_Missense_Mutation_p.P122L|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	122	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGGCCTGCCCCGCAGAGGGG	0.562000														50			49		0	0	0.003610	0	0
KIAA0182	23199	broad.mit.edu	37	16	85694852	85694852	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:85694852C>G	uc002fix.3	+	8	1815	c.1741C>G	c.(1741-1743)Ccc>Gcc	p.P581A	KIAA0182_uc002fiw.3_Missense_Mutation_p.P477A|KIAA0182_uc002fiy.3_Missense_Mutation_p.P508A|KIAA0182_uc002fiz.3_5'Flank|KIAA0182_uc010cho.3_5'Flank	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	581	Pro-rich.						protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CCATGCTGCACCCACGGCCCT	0.662000														46			25		0	0	0.003954	0	0
ASRGL1	80150	broad.mit.edu	37	11	62159581	62159581	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62159581C>T	uc001nte.4	+	6	1036	c.752C>T	c.(751-753)tCg>tTg	p.S251L	ASRGL1_uc001ntf.4_Missense_Mutation_p.S251L|ASRGL1_uc001ntg.4_Missense_Mutation_p.S123L|ASRGL1_uc021qkl.1_5'Flank	NM_025080	NP_079356	Q7L266	ASGL1_HUMAN	Homo sapiens asparaginase like 1 (ASRGL1), transcript variant 2, mRNA.	251					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	GCGGACCTATCGTTGGGTTAT	0.478000											OREG0021023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			24		0	0	0.005443	0	0
LILRB1	10859	broad.mit.edu	37	19	55143505	55143506	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55143505_55143506GG>AA	uc002qgj.3	+	5	818_819	c.478_479GG>AA	c.(478-480)gga>AAa	p.G160K	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.G160K|LILRB1_uc002qgk.3_Missense_Mutation_p.G160K|LILRB1_uc002qgm.3_Missense_Mutation_p.G160K|LILRB1_uc010erq.3_Missense_Mutation_p.G160K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	160	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTGTAAGGAAGGAGAAGATGAA	0.609000										HNSCC(37;0.09)				46			27		0	0	0.004672	0	0
COL22A1	169044	broad.mit.edu	37	8	139674289	139674289	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:139674289C>T	uc003yvd.3	-	42	3671	c.3224G>A	c.(3223-3225)gGc>gAc	p.G1075D	COL22A1_uc011ljo.2_Missense_Mutation_p.G355D	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1075	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1075C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCGGCTGGGCCCTGGGGGCC	0.547000										HNSCC(7;0.00092)				114			14		0	0	0.002450	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99627572	99627572	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:99627572C>T	uc003usk.1	+	3	888	c.669C>T	c.(667-669)tcC>tcT	p.S223S	ZKSCAN1_uc003usl.1_Silent_p.S187S|ZKSCAN1_uc003usm.1_Silent_p.S10S	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	223					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGGATTCCCAGGTGAGCT	0.597000														20			13		0	0	0.001855	0	0
ITGAX	3687	broad.mit.edu	37	16	31373954	31373954	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:31373954C>T	uc002ebt.3	+	11	1306	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	ITGAX_uc002ebu.1_Silent_p.L413L|ITGAX_uc010vfk.1_Silent_p.L63L	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	413					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.A412V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGGCCCTCTGGAAAGGGG	0.672000														7			3		0	0	0.004672	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905014	180905014	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:180905014C>T	uc001gok.2	+	4	2036	c.1969C>T	c.(1969-1971)Cac>Tac	p.H657Y	KIAA1614_uc001gol.1_Missense_Mutation_p.H278Y|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	657										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCTCGAGGCCACAGGTGGTC	0.667000														10			47		0	0	0.002852	0	0
CAPN6	827	broad.mit.edu	37	X	110494250	110494250	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:110494250C>A	uc004epc.2	-	7	1244	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	CAPN6_uc011msu.2_Missense_Mutation_p.K96N	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	351	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ATTCCAGCTCCTTTCGGCCAA	0.502000														14			156		2.07621e-90	3.12957e-90	0.003610	1	0
SDK1	221935	broad.mit.edu	37	7	4277403	4277403	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4277403G>A	uc003smx.3	+	41	6256	c.6117G>A	c.(6115-6117)aaG>aaA	p.K2039K	SDK1_uc010kso.3_Silent_p.K1295K|SDK1_uc003smy.3_Silent_p.K526K|SDK1_uc003smz.3_Silent_p.K99K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2039					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)		AGAAGTATAAGAACTGCAGCA	0.592000														166			20		0	0	0.002780	0	0
RGS7BP	401190	broad.mit.edu	37	5	63905011	63905011	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:63905011A>G	uc003jtj.3	+	5	706	c.706A>G	c.(706-708)Act>Gct	p.T236A	RGS7BP_uc011cqu.2_Missense_Mutation_p.T103A	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	236					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		TCTGAATCTAACTCCCTACCC	0.468000														25			31		0	0	0.004289	0	0
IL7R	3575	broad.mit.edu	37	5	35876118	35876118	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:35876118C>T	uc003jjs.3	+	7	999	c.910C>T	c.(910-912)Ctg>Ttg	p.L304L	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	304					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	p.L304Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAGTTTCCTGGACTGCCA	0.408000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							39			16		0	0	0.004007	0	0
ZFP3	124961	broad.mit.edu	37	17	4995744	4995744	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:4995744G>A	uc002gaq.3	+	1	1070	c.945G>A	c.(943-945)ggG>ggA	p.G315G	ZFP3_uc021tog.1_Silent_p.G315G	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATGAATGTGGGAAGGGCTTCG	0.433000														10			9		0	0	0.006214	0	0
YTHDC2	64848	broad.mit.edu	37	5	112915296	112915296	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:112915296C>T	uc003kqn.3	+	23	3460	c.3258C>T	c.(3256-3258)ccC>ccT	p.P1086P		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	1086							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATGGCATTCCCAATGACAGTA	0.378000														222			45		0	0	0.003610	0	0
LIPF	8513	broad.mit.edu	37	10	90436022	90436022	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:90436022G>A	uc001kfg.2	+	8	1059	c.945G>A	c.(943-945)agG>agA	p.R315R	LIPF_uc001kfh.2_Silent_p.R292R|LIPF_uc010qmt.2_Silent_p.R325R|LIPF_uc010qmu.2_Silent_p.R282R	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	315					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)		TTCAGAATAGGATGCACTATG	0.303000														19			16		0	0	0.007413	0	0
LRG1	116844	broad.mit.edu	37	19	4538435	4538435	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:4538435G>A	uc002mau.3	-	1	572	c.561C>T	c.(559-561)ttC>ttT	p.F187F	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	187						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGAGGGTGAAGTTGGCCA	0.617000														81			52		0	0	0.003610	0	0
SPAG1	6674	broad.mit.edu	37	8	101243404	101243404	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:101243404C>G	uc003yjh.2	+	14	1962	c.1876C>G	c.(1876-1878)Ctt>Gtt	p.L626V	SPAG1_uc003yji.2_Missense_Mutation_p.L626V	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	626					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATTTAAAGCCCTTAAGGAAGA	0.318000														180			32		0	0	0.002096	0	0
CXXC1	30827	broad.mit.edu	37	18	47813150	47813150	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:47813150A>G	uc002leq.4	-	1	815	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.Y28H|CXXC1_uc010doy.3_Missense_Mutation_p.Y28H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	28					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGATGCAGTAGATGGGCGCA	0.627000														40			21		0	0	0.002299	0	0
MYH10	4628	broad.mit.edu	37	17	8451692	8451692	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:8451692A>C	uc002glm.3	-	10	1194	c.1098T>G	c.(1096-1098)ttT>ttG	p.F366L	MYH10_uc002gll.3_Missense_Mutation_p.F356L|MYH10_uc010cnx.3_Missense_Mutation_p.F365L|Metazoa_SRP_uc021tqb.1_5'Flank	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	356	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAATATTTCCAAACTGTAGCA	0.313000														52			16		0	0	0.007413	0	0
PCDHB4	56131	broad.mit.edu	37	5	140501932	140501932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:140501932G>A	uc003lip.1	+	0	352	c.352G>A	c.(352-354)Gga>Aga	p.G118R		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	118	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTCAAGGAGAATTATT	0.433000														66			16		0	0	0.004990	0	0
SPOCD1	90853	broad.mit.edu	37	1	32279600	32279600	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:32279600G>A	uc001bts.1	-	1	1393	c.1335C>T	c.(1333-1335)tcC>tcT	p.S445S	SPOCD1_uc001btu.3_Silent_p.S445S|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	445					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TGTCCTGGTGGGAGTTGTCTG	0.572000														75			26		0	0	0.006320	0	0
KCNA4	3739	broad.mit.edu	37	11	30032383	30032383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:30032383C>T	uc021qfi.1	-	0	1843	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	KCNA4_uc001msk.3_Missense_Mutation_p.E615K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	615						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTCCTTCTTCCATCTCTAGA	0.453000														28			22		0	0	0.001523	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140185	3140185	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:3140185G>A	uc002ctv.1	-	4	1173	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	ZSCAN10_uc002cty.1_Missense_Mutation_p.S23L|ZSCAN10_uc002ctw.1_Missense_Mutation_p.S280L|ZSCAN10_uc002ctx.1_Missense_Mutation_p.S290L	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	362					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCTCAGGTGCGAGCTCTGGCG	0.692000														34			19		0	0	0.001523	0	0
ANKAR	150709	broad.mit.edu	37	2	190593472	190593472	+	Missense_Mutation	SNP	C	T	T	rs149050269		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:190593472C>T	uc002uqw.2	+	14	3206	c.3118C>T	c.(3118-3120)Cgc>Tgc	p.R1040C	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.R136C	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1040						integral to membrane	binding	p.V1040L(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACCATTGGTTCGCTTACTAAG	0.393000														29			26		0	0	0.004656	0	0
ARAP2	116984	broad.mit.edu	37	4	36163142	36163142	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:36163142G>A	uc003gsq.2	-	11	2542	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F	ARAP2_uc003gsr.1_Missense_Mutation_p.S735F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	735	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTAACCTTGGAATCTTTTGG	0.348000														98			22		0	0	0.003330	0	0
C9orf174	100499483	broad.mit.edu	37	9	100132243	100132244	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:100132243_100132244CC>TT	uc011lut.2	+	45	5784_5785	c.4778_4779CC>TT	c.(4777-4779)ccc>cTT	p.P1593L	C9orf174_uc004axe.2_Missense_Mutation_p.P1399L|C9orf174_uc011lus.2_Missense_Mutation_p.P1180L|C9orf174_uc004axg.2_Missense_Mutation_p.P1454L|C9orf174_uc004axh.2_Non-coding_Transcript	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	1399						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						GAGCTGCTGCCCCAAGTGTGTT	0.500000														20			9		0	0	0.004672	0	0
DNAH1	25981	broad.mit.edu	37	3	52387454	52387454	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:52387454C>T	uc011bef.2	+	19	3546	c.3285C>T	c.(3283-3285)atC>atT	p.I1095I	DNAH1_uc003ddt.1_Silent_p.I1095I	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1095	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AACCATACATCCCACTGATCC	0.602000														62			26		0	0	0.006320	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442004	41442004	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:41442004C>T	uc010ehg.1	+	1	182	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.F58F|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ATTGGCAGTTCCGAGAGAAAT	0.517000														13			6		0	0	0.003080	0	0
RPL8	6132	broad.mit.edu	37	8	146016825	146016825	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:146016825G>A	uc003zeb.3	-	3	447	c.336C>T	c.(334-336)atC>atT	p.I112I	RPL8_uc003zec.3_Silent_p.I112I|RPL8_uc010mgc.3_3'UTR	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	112					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GGCAGCACACGATTGTACCCT	0.577000														73			10		0	0	0.006214	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108188	26108188	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:26108188G>A	uc003ngj.3	-	0	177	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	45	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						GATCAACTTGGACACAGAGAG	0.547000														114			15		0	0	0.004007	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156725868	156725868	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:156725868G>A	uc003ipc.3	+	11	1845	c.1678G>A	c.(1678-1680)Gga>Aga	p.G560R	GUCY1B3_uc011cio.2_Missense_Mutation_p.G582R|GUCY1B3_uc011cip.2_Missense_Mutation_p.G540R|GUCY1B3_uc003ipd.3_Missense_Mutation_p.G488R|GUCY1B3_uc010iqf.3_Missense_Mutation_p.G527R|GUCY1B3_uc010iqg.3_Missense_Mutation_p.G531R|GUCY1B3_uc011ciq.2_Missense_Mutation_p.G488R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	560					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGGAGAAAAGGGAAAAATAAA	0.393000														14			9		0	0	0.004482	0	0
PTPRA	5786	broad.mit.edu	37	20	3005267	3005267	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:3005267G>A	uc010zqd.2	+	16	1964	c.1647_splice	c.e16+1	p.K549_splice	PTPRA_uc002whj.3_Splice_Site_p.K538_splice|PTPRA_uc002whk.3_Splice_Site_p.K529_splice|PTPRA_uc002whl.3_Splice_Site_p.K529_splice|PTPRA_uc002whm.3_Splice_Site_p.K305_splice|PTPRA_uc002whn.3_Splice_Site_p.K529_splice|PTPRA_uc002who.3_Splice_Site_p.K201_splice	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	538	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGAGTTTAAGGTGAGTTGGA	0.458000														70			33		0	0	0.002445	0	0
AHNAK	79026	broad.mit.edu	37	11	62296260	62296260	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62296260C>T	uc001ntl.3	-	4	5929	c.5629G>A	c.(5629-5631)Gtg>Atg	p.V1877M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1877					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTTGGCACCGACACATCC	0.517000														80			57		0	0	0.003610	0	0
PDZD3	79849	broad.mit.edu	37	11	119059864	119059864	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:119059864G>A	uc001pwb.3	+	7	2160	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	PDZD3_uc001pvz.3_Missense_Mutation_p.A480T|PDZD3_uc010rzd.2_Missense_Mutation_p.A467T|PDZD3_uc001pvy.3_Missense_Mutation_p.A466T|PDZD3_uc001pwa.3_Missense_Mutation_p.A176T			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	546	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GAAGCTGGCAGCCAGGTCTCT	0.597000														9			7		0	0	0.001984	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432519	73432519	+	Silent	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:73432519T>A	uc003dpl.1	-	9	3294	c.3198A>T	c.(3196-3198)gtA>gtT	p.V1066V	PDZRN3_uc011bgh.1_Silent_p.V723V|PDZRN3_uc010hoe.1_Silent_p.V764V|PDZRN3_uc021xaq.1_Silent_p.V359V|PDZRN3_uc011bgf.1_Silent_p.V783V|PDZRN3_uc011bgg.1_Silent_p.V786V	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	1066							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGAAAATTATACAGTAGTCA	0.423000														75			30		0	0	0.002096	0	0
GALNTL1	57452	broad.mit.edu	37	14	69800304	69800304	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:69800304G>A	uc001xlb.2	+	8	1281	c.954G>A	c.(952-954)ggG>ggA	p.G318G	GALNTL1_uc001xla.2_Silent_p.G318G|GALNTL1_uc010aqu.2_Silent_p.G318G	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	318	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ACATCTGGGGGGGAGAGAATT	0.473000														29			25		0	0	0.007291	0	0
TMEM117	84216	broad.mit.edu	37	12	44238710	44238710	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:44238710C>T	uc001rod.3	+	1	322	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	TMEM117_uc001roe.3_Missense_Mutation_p.S15F|TMEM117_uc009zkc.3_Silent_p.L86L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	86						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGGCAAATTTCTGTTCCATCA	0.358000														63			30		0	0	0.002836	0	0
GSS	2937	broad.mit.edu	37	20	33519905	33519905	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:33519905G>A	uc002xbg.3	-	9	946	c.866C>T	c.(865-867)tCa>tTa	p.S289L	GSS_uc010zun.2_Missense_Mutation_p.S161L|GSS_uc010zuo.2_Missense_Mutation_p.S178L|GSS_uc010zup.2_Missense_Mutation_p.S220L|GSS_uc010gez.1_Missense_Mutation_p.S19L	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	289					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGCAGCATGTGACCTCTCCAG	0.517000														117			30		0	0	0.003755	0	0
MED12L	116931	broad.mit.edu	37	3	150911442	150911442	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:150911442C>T	uc003eyp.3	+	13	2263	c.2134C>T	c.(2134-2136)Cct>Tct	p.P712S	MED12L_uc011bnz.2_Missense_Mutation_p.P572S|MED12L_uc003eyn.3_Missense_Mutation_p.P747S|MED12L_uc003eyo.3_Missense_Mutation_p.P712S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	712					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACACATTTTCCTATACCTCT	0.338000														68			22		0	0	0.003330	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022309	51022309	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:51022309C>T	uc002pss.3	-	2	798	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	221						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TTGGGGATGTCCTTGAGGTTG	0.662000														5			14		0	0	0.002450	0	0
GPATCH1	55094	broad.mit.edu	37	19	33600768	33600768	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:33600768C>T	uc002nug.1	+	10	1745	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	477						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCCAGCTCTCCCCTGCAGCGG	0.567000														188			17		0	0	0.004007	0	0
TGFBR3	7049	broad.mit.edu	37	1	92195499	92195499	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:92195499C>A	uc001doh.3	-	5	1115	c.600G>T	c.(598-600)ggG>ggT	p.G200G	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.G158G|TGFBR3_uc001doi.3_Silent_p.G200G|TGFBR3_uc001doj.3_Silent_p.G200G	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	200					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GAAAATTCTTCCCTATGTTGC	0.478000														69			28		9.65021e-13	1.44467e-12	0.002096	1	0
LHX9	56956	broad.mit.edu	37	1	197889123	197889123	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:197889123G>A	uc001guk.1	+	1	633	c.196G>A	c.(196-198)Gag>Aag	p.E66K	LHX9_uc001gui.1_Missense_Mutation_p.E57K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	66					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P65L(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCTCAGCCCGGAGAAGCCCGC	0.662000														123			35		0	0	0.004289	0	0
HSPD1	3329	broad.mit.edu	37	2	198353733	198353733	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:198353733A>C	uc002uui.3	-	8	1345	c.1208T>G	c.(1207-1209)gTg>gGg	p.V403G	HSPD1_uc010zgx.2_Missense_Mutation_p.V394G|HSPD1_uc010fsm.3_Missense_Mutation_p.V214G|HSPD1_uc002uuk.3_Missense_Mutation_p.V403G	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	403					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TACCTTCAGCACAGCCACTCC	0.363000														41			20		0	0	0.002299	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122541	153122541	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:153122541G>A	uc021ozu.1	-	0	46	c.46C>T	c.(46-48)Cct>Tct	p.P16S	SPRR2G_uc009wod.2_Missense_Mutation_p.P16S	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	16					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGCACACAGGAGGTGGCTGG	0.572000														105			33		0	0	0.004878	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37436309	37436309	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:37436309G>A	uc021ppc.1	+	8	1398	c.1299G>A	c.(1297-1299)gaG>gaA	p.E433E	ANKRD30A_uc001iza.1_Silent_p.E433E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	489						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTCTCTTTGAGAGTTCTGCAA	0.254000														27			11		0	0	0.002450	0	0
MATN2	4147	broad.mit.edu	37	8	99045812	99045812	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:99045812G>A	uc003yic.3	+	17	2971	c.2740G>A	c.(2740-2742)Gat>Aat	p.D914N	MATN2_uc010mbh.1_Missense_Mutation_p.D873N|MATN2_uc003yid.3_Missense_Mutation_p.D895N|MATN2_uc003yie.1_Missense_Mutation_p.D914N|MATN2_uc010mbi.1_Missense_Mutation_p.D728N|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	914						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGAAAAACACGATCAATGCAA	0.388000														28			7		0	0	0.004482	0	0
ZAN	7455	broad.mit.edu	37	7	100348286	100348286	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:100348286C>T	uc003uwj.3	+	11	1453	c.1288C>T	c.(1288-1290)Cag>Tag	p.Q430*	ZAN_uc003uwk.3_Nonsense_Mutation_p.Q430*|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	430	MAM 3.		Q -> H (in dbSNP:rs221833).		binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGAGTTCTCCCAGGCAGGCCA	0.577000														14			6		0	0	0.001168	0	0
FHOD1	29109	broad.mit.edu	37	16	67281298	67281298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:67281298C>T	uc002esl.3	-	0	128	c.16G>A	c.(16-18)Gac>Aac	p.D6N	FHOD1_uc010ced.3_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.3_5'Flank|SLC9A5_uc010cee.3_5'Flank|SLC9A5_uc010vji.2_5'Flank	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	6					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.E5*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCCCCGCGGTCTTCCCCGCCC	0.677000														12			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179399168	179399168	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179399168C>T	uc021vsy.1	-	306	94695	c.94470G>A	c.(94468-94470)agG>agA	p.R31490R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R25185R|TTN_uc021vta.1_Silent_p.R25118R|TTN_uc021vtb.1_Silent_p.R24993R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32417	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R25118R(1)|p.R25185R(1)|p.R31490R(1)|p.R24993R(1)|p.R31488R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCGAGATTTCCTCTCTTTCA	0.413000														51			36		0	0	0.004878	0	0
CABP2	51475	broad.mit.edu	37	11	67287268	67287268	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:67287268G>A	uc001ome.1	-	5	739	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CABP2_uc001omc.1_Silent_p.F211F			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	211	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGGTACCTTCGAAGTCGACCA	0.642000														70			45		0	0	0.003610	0	0
OR7G2	390882	broad.mit.edu	37	19	9213450	9213450	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9213450A>T	uc010xkk.2	-	0	533	c.533T>A	c.(532-534)cTt>cAt	p.L178H		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCTGAGAAGAAGGGCATTCAC	0.517000														15			11		0	0	0.000978	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512027	15512027	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:15512027G>A	uc002naw.1	-	4	849	c.750C>T	c.(748-750)ttC>ttT	p.F250F	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.F189F|AKAP8L_uc002nay.1_Silent_p.F250F|AKAP8L_uc002naz.3_Silent_p.F98F	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	250						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCAAACCCGAAACCAAAGC	0.632000														71			71		0	0	0.003610	0	0
OSBPL5	114879	broad.mit.edu	37	11	3125455	3125455	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:3125455G>A	uc001lxk.2	-	9	1370	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	OSBPL5_uc010qxq.1_Silent_p.S315S|OSBPL5_uc009ydw.2_Silent_p.S336S|OSBPL5_uc001lxl.2_Silent_p.S336S|OSBPL5_uc009ydx.3_Silent_p.S428S	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	404					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AGTAGTAGTCGGAGAGCTTGT	0.647000														19			18		0	0	0.007413	0	0
FREM1	158326	broad.mit.edu	37	9	14750232	14750232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:14750232C>T	uc003zlm.3	-	30	6266	c.5450G>A	c.(5449-5451)gGa>gAa	p.G1817E	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.G353E	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1817	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTCCTCTAATCCGTCATAGGT	0.363000														56			24		0	0	0.002299	0	0
NGRN	51335	broad.mit.edu	37	15	90814640	90814640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:90814640G>A	uc002bpf.1	+	2	546	c.496G>A	c.(496-498)Ggc>Agc	p.G166S	TTLL13_uc002bpe.1_Non-coding_Transcript|NGRN_uc002bpg.1_Missense_Mutation_p.G94S	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	Homo sapiens neugrin, neurite outgrowth associated (NGRN), transcript variant 2, mRNA.	166					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GCTCCCTGCAGGCCACTCTGT	0.512000														33			21		0	0	0.002780	0	0
LPPR4	9890	broad.mit.edu	37	1	99771774	99771774	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:99771774G>A	uc001dse.3	+	6	1658	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	LPPR4_uc010oue.2_Silent_p.Q442Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	500							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGGCAATCAGTACCTCAAAA	0.572000														90			58		0	0	0.003610	0	0
TMC1	117531	broad.mit.edu	37	9	75404142	75404142	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:75404142G>A	uc004aiz.1	+	14	1673	c.1133G>A	c.(1132-1134)gGg>gAg	p.G378E	TMC1_uc010moz.1_Missense_Mutation_p.G336E|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.G232E|TMC1_uc010mpa.1_Missense_Mutation_p.G232E	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	378					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ACACTTGGAGGGAGTGGATAC	0.463000														41			21		0	0	0.008871	0	0
SRPK1	6732	broad.mit.edu	37	6	35825091	35825091	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:35825091G>A	uc003olj.3	-	12	1691	c.1567C>T	c.(1567-1569)Cta>Tta	p.L523L	SRPK1_uc003olh.3_Silent_p.L416L|SRPK1_uc003oli.3_Silent_p.L416L|SRPK1_uc011dtg.2_Silent_p.L507L	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	523	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I523I(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GATCCGATTAGAACTTCCAAG	0.368000														43			10		0	0	0.001368	0	0
CYP2A6	1548	broad.mit.edu	37	19	41350595	41350595	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:41350595T>G	uc002opl.4	-	7	1265	c.1244A>C	c.(1243-1245)cAc>cCc	p.H415P		NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	415					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	ATTCAGGAAGTGCTGGGGATT	0.547000														42			32		0	0	0.002096	0	0
TUB	7275	broad.mit.edu	37	11	8118894	8118894	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:8118894C>T	uc001mga.3	+	6	956	c.807C>T	c.(805-807)atC>atT	p.I269I	TUB_uc010rbk.2_Silent_p.I275I|TUB_uc001mfy.3_Silent_p.I324I	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	269					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AATGCCGCATCACTCGGGACA	0.577000														47			28		0	0	0.002096	0	0
SNX9	51429	broad.mit.edu	37	6	158342637	158342637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:158342637C>T	uc003qqv.1	+	9	1197	c.1024C>T	c.(1024-1026)Cca>Tca	p.P342S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	342	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTGTCGCCATCCAGTAATCTC	0.443000														27			24		0	0	0.007291	0	0
DNAH2	146754	broad.mit.edu	37	17	7673712	7673712	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:7673712C>T	uc002giu.1	+	23	4098	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1362	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACTAAAGAGCTGGCTATAGA	0.537000														14			17		0	0	0.004007	0	0
TTC7B	145567	broad.mit.edu	37	14	91007723	91007723	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:91007723G>A	uc001xyp.3	-	19	2643	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	TTC7B_uc001xyo.3_Missense_Mutation_p.R285C|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	841							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CAGAGCACGCGGGGGATGATG	0.687000														5			4		0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179595861	179595861	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179595861A>C	uc021vsy.1	-	56	14024	c.13799T>G	c.(13798-13800)gTt>gGt	p.V4600G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1261G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5527	Ig-like 26.						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)			TGAAAATTTAACCTGCAAAGT	0.438000														77			52		0	0	0.003610	0	0
NPAS4	266743	broad.mit.edu	37	11	66191616	66191616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:66191616G>A	uc001ohx.1	+	6	1431	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	NPAS4_uc010rpc.1_Missense_Mutation_p.D209N	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	419					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						ACTAAGCAAGGATCTTGTGTG	0.557000														55			47		0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21733318	21733318	+	Silent	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:21733318A>C	uc001rfb.3	-	1	516	c.261T>G	c.(259-261)gcT>gcG	p.A87A		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	87					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTCTTCTGACAGCATCATTTA	0.418000														63			41		0	0	0.003610	0	0
PHACTR3	116154	broad.mit.edu	37	20	58330342	58330342	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:58330342G>A	uc002yau.3	+	3	931	c.464G>A	c.(463-465)gGa>gAa	p.G155E	PHACTR3_uc002yat.3_Missense_Mutation_p.G152E|PHACTR3_uc010zzw.2_Missense_Mutation_p.G114E|PHACTR3_uc002yav.3_Missense_Mutation_p.G114E|PHACTR3_uc002yaw.3_Missense_Mutation_p.G114E|PHACTR3_uc002yax.3_Missense_Mutation_p.G114E	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	155						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.P154P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GCCCAGCCCGGAAGCCCCTTG	0.602000														22			8		0	0	0.004482	0	0
RAB5B	5869	broad.mit.edu	37	12	56380879	56380879	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:56380879C>T	uc001siv.3	+	1	315	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RAB5B_uc001siw.3_Silent_p.F45F|RAB5B_uc010spz.2_Silent_p.F45F|RAB5B_uc009zog.3_Missense_Mutation_p.S36F	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	45					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	p.Q44*(1)		endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			AAGGGCAGTTCCATGAGTACC	0.458000														48			25		0	0	0.002445	0	0
PRIC285	85441	broad.mit.edu	37	20	62200328	62200328	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:62200328G>A	uc002yfm.2	-	5	2005	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	371					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CCGTCTTCAGGAACACCTGGC	0.677000														35			11		0	0	0.001368	0	0
IL10RA	3587	broad.mit.edu	37	11	117864127	117864127	+	Splice_Site	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:117864127T>A	uc001prv.3	+	4	614	c.537_splice	c.e4+2	p.T179_splice	IL10RA_uc010rxl.2_Splice_Site_p.T159_splice|IL10RA_uc010rxm.2_Splice_Site_p.T159_splice|IL10RA_uc010rxn.2_Splice_Site_p.T30_splice|IL10RA_uc001prw.3_Splice_Site_p.T30_splice	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	179						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AACTTCACGGTATGGGGTTCC	0.557000														7			25		0	0	0.004656	0	0
NAPSB	256236	broad.mit.edu	37	19	50837578	50837578	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:50837578C>T	uc002prw.3	-	7	1014	c.238G>A	c.(238-240)Gat>Aat	p.D80N	NR1H2_uc002prv.4_Intron					Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.											central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						ATGACGTAATCCTGGGCCGTG	0.537000														6			9		0	0	0.008291	0	0
NLRP9	338321	broad.mit.edu	37	19	56226485	56226485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:56226485C>T	uc002qly.3	-	5	2465	c.2437G>A	c.(2437-2439)Gat>Aat	p.D813N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	813						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACTCCATTATCTTCCAGGGCA	0.547000														64			30		0	0	0.007291	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586909	42586909	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:42586909C>A	uc003xpi.1	+	4	587	c.459C>A	c.(457-459)tgC>tgA	p.C153*		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	153					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAAGCTCCTGCACCATGGACG	0.527000														24			15		1.49906e-05	2.23396e-05	0.002450	1	0
CD200R1L	344807	broad.mit.edu	37	3	112545993	112545993	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:112545993C>A	uc003dzi.1	-	3	752	c.526G>T	c.(526-528)Gag>Tag	p.E176*	CD200R1L_uc010hqf.1_Nonsense_Mutation_p.E155*|CD200R1L_uc011bhw.1_Nonsense_Mutation_p.E155*	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	176	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATAGATCCCTCTGGGATCCAG	0.507000														25			10		7.48243e-07	1.1176e-06	0.006214	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837394	12837394	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:12837394C>T	uc001aui.3	+	2	1131	c.1104C>T	c.(1102-1104)atC>atT	p.I368I		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	368										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCAGCGCCATCCTGCCTGCCC	0.632000														61			23		0	0	0.003954	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41721580	41721580	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:41721580C>T	uc003azw.3	+	2	282	c.66C>T	c.(64-66)ccC>ccT	p.P22P	ZC3H7B_uc003azv.1_Silent_p.P22P	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	22					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CGACACTACCCCTAAAGCAAG	0.587000														36			4		0	0	0.000248	0	0
SMG8	55181	broad.mit.edu	37	17	57290426	57290427	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:57290426_57290427CC>TT	uc002ixi.3	+	2	2284_2285	c.2242_2243CC>TT	c.(2242-2244)cca>TTa	p.P748L		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	748					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGAGTATCTCCCAGGCATGCTA	0.441000														29			70		0	0	0.004672	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156911701	156911701	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:156911701G>A	uc001fqo.3	-	32	4327	c.3287C>T	c.(3286-3288)cCc>cTc	p.P1096L	ARHGEF11_uc010phu.2_Missense_Mutation_p.P512L|ARHGEF11_uc001fqn.3_Missense_Mutation_p.P1136L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1096	Poly-Pro.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.I1096L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGACCTGGGGGTGGAGGATG	0.647000														54			21		0	0	0.003330	0	0
ZNF99	7652	broad.mit.edu	37	19	22952081	22952081	+	Missense_Mutation	SNP	C	T	T	rs149345966	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:22952081C>T	uc021urt.1	-	1	204	c.49G>A	c.(49-51)Gag>Aag	p.E17K		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTGCCACTCCTCCAGAGCG	0.403000														22			16		0	0	0.004007	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284460	52284460	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52284460C>T	uc001rzd.3	+	4	908	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R119W|ANKRD33_uc001rze.3_Missense_Mutation_p.R140W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R46W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R119W	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	119								p.R244W(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GTGGAGGATTCGGCAGCTGCT	0.672000														34			12		0	0	0.001855	0	0
CASR	846	broad.mit.edu	37	3	121973120	121973120	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:121973120G>C	uc003eew.4	+	1	522	c.84G>C	c.(82-84)aaG>aaC	p.K28N	CASR_uc003eev.4_Missense_Mutation_p.K28N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	28					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCCCAAAAGAAGGGGGACA	0.522000														74			37		0	0	0.003271	0	0
DNASE1	1773	broad.mit.edu	37	16	3705913	3705913	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:3705913G>A	uc002cvr.3	+	2	2318	c.211G>A	c.(211-213)Ggg>Agg	p.G71R		NM_005223	NP_005214	P24855	DNAS1_HUMAN	Homo sapiens deoxyribonuclease I (DNASE1), mRNA.	71					DNA catabolic process|apoptosis	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GACTGCCGTGGGGAAGCTGCT	0.622000														25			22		0	0	0.005443	0	0
GLB1	2720	broad.mit.edu	37	3	33038604	33038605	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:33038604_33038605GG>AA	uc011axk.1	-	16	2227_2228	c.2110_2111CC>TT	c.(2110-2112)cct>TTt	p.P704F	GLB1_uc003cfh.1_Missense_Mutation_p.P626F|GLB1_uc003cfi.1_Missense_Mutation_p.P656F|GLB1_uc003cfj.1_Missense_Mutation_p.P525F	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	656					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTTTCAACAGGTTTGGAGGGA	0.495000														67			29		0	0	0.004672	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773696	35773696	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:35773696C>T	uc003olg.1	+	0	626	c.249C>T	c.(247-249)ccC>ccT	p.P83P		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	83						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						AGGGCGGCCCCCTAGACTTCT	0.577000														249			46		0	0	0.003610	0	0
PHOX2B	8929	broad.mit.edu	37	4	41750415	41750415	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:41750415C>T	uc003gwf.4	-	0	573	c.213G>A	c.(211-213)agG>agA	p.R71R		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	71					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTGGTGGTCCCTGAGGGTGC	0.602000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					84			9		0	0	0.008291	0	0
FAM129A	116496	broad.mit.edu	37	1	184787892	184787892	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:184787892C>T	uc001gra.3	-	8	1247	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	FAM129A_uc001grb.1_Silent_p.L114L|FAM129A_uc009wyh.1_Silent_p.L179L|FAM129A_uc009wyi.1_Silent_p.L149L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	351					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGAGCTCCTCCAGGATGGATG	0.527000														207			53		0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48367243	48367243	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:48367243C>T	uc001rqu.3	-	53	4592	c.4411G>A	c.(4411-4413)Gga>Aga	p.G1471R	COL2A1_uc001rqt.3_Missense_Mutation_p.G252R|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1402R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1471	Fibrillar collagen NC1.				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)	TCGGGCCCTCCTATGTCCATG	0.527000														87			37		0	0	0.006230	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720122	27720122	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:27720122A>C	uc002dow.3	+	12	1510	c.1486A>C	c.(1486-1488)Aca>Cca	p.T496P	KIAA0556_uc002dox.1_Missense_Mutation_p.T404P	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	496										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGTGGGTCTCACAGAAGTCGA	0.537000														56			15		0	0	0.004990	0	0
RPL8	6132	broad.mit.edu	37	8	146015848	146015848	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:146015848C>A	uc003zeb.3	-	4	618	c.507G>T	c.(505-507)gtG>gtT	p.V169V	RPL8_uc003zec.3_Silent_p.V169V	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	169					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CACCTCCAGCCACCACACCTG	0.577000														128			20		3.62473e-10	5.41647e-10	0.001882	1	0
FPR1	2357	broad.mit.edu	37	19	52249517	52249517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:52249517G>A	uc021uyn.1	-	2	877	c.731C>T	c.(730-732)tCc>tTc	p.S244F	FPR1_uc002pxq.3_Missense_Mutation_p.S244F|FPR1_uc021uyo.1_Missense_Mutation_p.S244F	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	244					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGCGACAAAGGAGAGGACCCG	0.507000														19			19		0	0	0.008871	0	0
MATN2	4147	broad.mit.edu	37	8	99019816	99019816	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:99019816G>A	uc003yic.3	+	9	1791	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	MATN2_uc010mbh.1_Silent_p.G479G|MATN2_uc003yid.3_Silent_p.G520G|MATN2_uc003yie.1_Silent_p.G520G|MATN2_uc010mbi.1_Silent_p.G353G	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	520	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GCAGCGATGGGAAGACGTGTG	0.567000														149			27		0	0	0.005443	0	0
GON4L	54856	broad.mit.edu	37	1	155796811	155796811	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:155796811G>C	uc001flz.2	-	2	611	c.514C>G	c.(514-516)Caa>Gaa	p.Q172E	GON4L_uc001fly.1_Missense_Mutation_p.Q172E|GON4L_uc009wrh.1_Missense_Mutation_p.Q172E|GON4L_uc001fma.1_Missense_Mutation_p.Q172E|GON4L_uc001fmc.3_Missense_Mutation_p.Q172E|GON4L_uc001fmd.4_Missense_Mutation_p.Q172E|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	172					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAATTCATTTGAGGTTTCCCT	0.428000														69			12		0	0	0.002450	0	0
GKN2	200504	broad.mit.edu	37	2	69174314	69174314	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:69174314G>A	uc002sfa.3	-	3	389	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	GKN2_uc002sfb.4_Silent_p.L94L	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	94	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGATTGTTCAGAGGAGGGATG	0.463000														108			28		0	0	0.008361	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074232	46074232	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:46074232G>A	uc002zfs.1	-	0	345	c.300C>T	c.(298-300)gtC>gtT	p.V100V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	100	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CAGGTCTATAGACCAGGGTGG	0.612000														23			13		0	0	0.002450	0	0
ASTN1	460	broad.mit.edu	37	1	177001815	177001815	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:177001815C>T	uc001glc.3	-	2	854	c.642G>A	c.(640-642)cgG>cgA	p.R214R	ASTN1_uc001glb.1_Silent_p.R214R|ASTN1_uc001gld.1_Silent_p.R214R|ASTN1_uc009wwx.1_Silent_p.R214R|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	214					cell migration|neuron cell-cell adhesion	integral to membrane		p.R214Q(1)|p.R214R(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCAGGCTCTCCCGTCCGTGCC	0.622000														14			36		0	0	0.005524	0	0
CRNN	49860	broad.mit.edu	37	1	152382122	152382122	+	Missense_Mutation	SNP	C	T	T	rs138795800		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:152382122C>T	uc001ezx.2	-	2	1510	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	479					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGATGCCTCGCTTCTCTTC	0.542000														68			16		0	0	0.004007	0	0
CDH13	1012	broad.mit.edu	37	16	83711929	83711929	+	Silent	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:83711929T>G	uc010vns.2	+	10	1806	c.1542T>G	c.(1540-1542)acT>acG	p.T514T	CDH13_uc002fgx.3_Silent_p.T467T|CDH13_uc010vnt.2_Silent_p.T213T|CDH13_uc010vnu.2_Silent_p.T428T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	467	Cadherin 4.				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)		TCCACATCACTGTCCTGGATG	0.582000														54			18		0	0	0.008871	0	0
SLC15A2	6565	broad.mit.edu	37	3	121634077	121634077	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:121634077G>A	uc003eep.2	+	5	685	c.532G>A	c.(532-534)Gag>Aag	p.E178K	SLC15A2_uc011bjn.1_Missense_Mutation_p.E147K	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	178					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GTTTCAGGCAGAGGAACGGAC	0.448000														31			13		0	0	0.004007	0	0
MYH4	4622	broad.mit.edu	37	17	10355446	10355446	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:10355446C>T	uc002gmn.3	-	26	3661	c.3550G>A	c.(3550-3552)Gag>Aag	p.E1184K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1184					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						AGGGTGGACTCTTCCAGGTCC	0.587000														39			31		0	0	0.001786	0	0
FILIP1	27145	broad.mit.edu	37	6	76022585	76022585	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:76022585C>T	uc010kbe.3	-	5	3502	c.2972G>A	c.(2971-2973)aGa>aAa	p.R991K	FILIP1_uc003phy.1_Missense_Mutation_p.R988K|FILIP1_uc003phz.3_Missense_Mutation_p.R889K|FILIP1_uc003pia.3_Missense_Mutation_p.R988K|FILIP1_uc003pib.1_Missense_Mutation_p.R740K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	988										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						AGTCTTCTCTCTGGAAAATGT	0.463000														38			26		0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179448460	179448460	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:179448460C>G	uc021vsy.1	-	260	57970	c.57745G>C	c.(57745-57747)Gaa>Caa	p.E19249Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12944Q|TTN_uc021vta.1_Missense_Mutation_p.E12877Q|TTN_uc021vtb.1_Missense_Mutation_p.E12752Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20176	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E19248Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTACTCTTCCTGGGGAATC	0.458000														9			10		0	0	0.008291	0	0
ARID1A	8289	broad.mit.edu	37	1	27100165	27100165	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:27100165C>T	uc001bmv.1	+	15	4334	c.3961C>T	c.(3961-3963)Cct>Tct	p.P1321S	ARID1A_uc001bmt.1_Missense_Mutation_p.P1320S|ARID1A_uc001bmu.1_Missense_Mutation_p.P1321S|ARID1A_uc001bmw.1_Missense_Mutation_p.P938S|ARID1A_uc001bmx.1_Missense_Mutation_p.P167S|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1321					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATGTATTCTCCTAGCCGCTA	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									43			22		0	0	0.002780	0	0
RAI2	10742	broad.mit.edu	37	X	17818801	17818801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:17818801C>T	uc022btm.1	-	0	1330	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	RAI2_uc004cyf.3_Missense_Mutation_p.E444K|RAI2_uc004cyg.3_Missense_Mutation_p.E444K|RAI2_uc011miy.2_Missense_Mutation_p.E394K|RAI2_uc022btl.1_Missense_Mutation_p.E444K|RAI2_uc004cyh.4_Missense_Mutation_p.E444K|RAI2_uc010nfa.3_Missense_Mutation_p.E444K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	444					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACAGCATCTTCGACAGAGACA	0.537000														15			80		0	0	0.003610	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708302	29708302	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:29708302C>T	uc003afa.1	+	6	2058	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P394L|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.P620L|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	621					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCTGGGAGCCCCCTGGCTTGC	0.682000														18			25		0	0	0.004656	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202494	47202494	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:47202494G>A	uc003oyv.3	-	4	2083	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	550					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACTCATCCACGAAGAAGCCCT	0.597000														22			4		0	0	0.000602	0	0
OR5F1	338674	broad.mit.edu	37	11	55761646	55761646	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55761646C>T	uc010riv.2	-	0	456	c.456G>A	c.(454-456)ggG>ggA	p.G152G		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTTCAGCAACCCTGCAGCAA	0.507000														77			23		0	0	0.002780	0	0
BTN3A2	11118	broad.mit.edu	37	6	26373641	26373641	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:26373641C>T	uc010jqh.2	+	8	1223	c.964_splice	c.e8+1	p.R322_splice	BTN3A2_uc003nhp.3_Splice_Site_p.R322_splice|BTN3A2_uc011dkd.2_Splice_Site_p.R280_splice|BTN3A2_uc011dke.2_Splice_Site_p.R299_splice|BTN3A2_uc010jqi.2_Splice_Site_p.R322_splice	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	322						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GTACTTGACTCGTGAGTGGCT	0.433000														136			18		0	0	0.004990	0	0
ZNF286A	57335	broad.mit.edu	37	17	15619996	15619996	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:15619996C>T	uc010cot.3	+	5	1354	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	ZNF286A_uc002goz.4_Missense_Mutation_p.H208Y|ZNF286A_uc010vwa.2_Missense_Mutation_p.H320Y|ZNF286A_uc002gpa.3_Missense_Mutation_p.H320Y	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCAGAGAATTCACGTTGGAGA	0.403000														23			12		0	0	0.002450	0	0
PRF1	5551	broad.mit.edu	37	10	72360558	72360558	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:72360558C>T	uc009xqg.3	-	1	262	c.101G>A	c.(100-102)aGc>aAc	p.S34N	PRF1_uc001jrf.4_Missense_Mutation_p.S34N	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	34	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GAACTTGTGGCTGCGCTTGCA	0.677000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					13			8		0	0	0.003080	0	0
FGD5	152273	broad.mit.edu	37	3	14964650	14964650	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:14964650A>C	uc003bzc.3	+	15	4015	c.3905A>C	c.(3904-3906)aAg>aCg	p.K1302T	FGD5_uc011avk.2_Missense_Mutation_p.K1302T|FGD5_uc003bzd.3_Missense_Mutation_p.K380T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1302					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						GAGCTGAAGAAGCGGGGCAGG	0.617000														22			9		0	0	0.006214	0	0
HECW1	23072	broad.mit.edu	37	7	43591929	43591930	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:43591929_43591930CG>AT	uc003tid.1	+	27	5109_5110	c.4504_4505CG>AT	c.(4504-4506)cgg>ATg	p.R1502M	HECW1_uc011kbi.1_Missense_Mutation_p.R1468M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1502	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.F1501Y(1)|p.F1501L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACTGAGTACCGGGGAGGTGAG	0.480000														57			4		0	0	0.004672	0	0
LIMK2	3985	broad.mit.edu	37	22	31662023	31662023	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:31662023C>T	uc003akh.3	+	7	1091	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	LIMK2_uc003aki.3_Missense_Mutation_p.R70C|LIMK2_uc003akj.3_Missense_Mutation_p.R295C|LIMK2_uc003akk.3_Missense_Mutation_p.R295C|LIMK2_uc011aln.2_Missense_Mutation_p.R233C	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	316						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGAATCCCTTCGTTGTTCCAG	0.577000														35			34		0	0	0.004289	0	0
RTN4	57142	broad.mit.edu	37	2	55200750	55200750	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:55200750A>T	uc002rye.3	-	7	3783	c.3485T>A	c.(3484-3486)aTa>aAa	p.I1162K	RTN4_uc002ryc.3_Missense_Mutation_p.I169K|RTN4_uc002ryd.3_Missense_Mutation_p.I956K|RTN4_uc002ryf.3_Missense_Mutation_p.I362K|RTN4_uc002ryg.3_Missense_Mutation_p.I343K	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	1162	Reticulon.				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ATAATGATCTATCTGTGCCTG	0.343000														27			35		0	0	0.007835	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323175	61323175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:61323175C>T	uc002lji.3	-	7	1033	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D245N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	297					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.D297N(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTCAACGTGTCCTTGAGGTCA	0.488000														35			31		0	0	0.003755	0	0
TCEB3	6924	broad.mit.edu	37	1	24080647	24080647	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:24080647C>T	uc001bho.3	+	5	1733	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	558	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGAATGAATTCCAAGATGCAG	0.448000														60			24		0	0	0.003954	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091889	143091889	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:143091889G>A	uc003qjd.3	-	4	4730	c.3987C>T	c.(3985-3987)ctC>ctT	p.L1329L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGTTCCTGGGAGGGACTGCA	0.498000														20			28		0	0	0.005443	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185051	73185051	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:73185051G>A	uc003hgk.2	-	8	1387	c.1350C>T	c.(1348-1350)atC>atT	p.I450I		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	450	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGACATACTGGATATATCTTT	0.423000														23			23		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9066587	9066587	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9066587C>T	uc002mkp.3	-	2	21063	c.20859G>A	c.(20857-20859)ctG>ctA	p.L6953L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6955	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6953L(3)|p.L2586L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTCTCAGTCCAGGAG	0.458000														64			48		0	0	0.003214	0	0
TLR8	51311	broad.mit.edu	37	X	12939932	12939932	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:12939932G>A	uc004cvd.3	+	2	2997	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.G925R	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	925	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTGGGATCCGGGATTGGCCAT	0.433000														4			38		0	0	0.003214	0	0
KLHL24	54800	broad.mit.edu	37	3	183381293	183381293	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183381293G>A	uc003flv.3	+	3	1263	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	KLHL24_uc003flw.3_Missense_Mutation_p.R323Q|KLHL24_uc003flx.3_Missense_Mutation_p.R323Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	323						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GGATGTGAGCGAGTTGGAGGA	0.353000														55			21		0	0	0.003954	0	0
GCM2	9247	broad.mit.edu	37	6	10874655	10874655	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:10874655G>A	uc003mzn.4	-	4	1166	c.1094C>T	c.(1093-1095)cCc>cTc	p.P365L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	365					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTACCTGCAGGGAAGCTCTGG	0.572000														276			45		0	0	0.003610	0	0
CD74	972	broad.mit.edu	37	5	149784691	149784691	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:149784691T>C	uc003lsc.3	-	4	681	c.494A>G	c.(493-495)aAc>aGc	p.N165S	CD74_uc003lsd.3_Missense_Mutation_p.N165S|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	165					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTCTCAGGTTCTCCGGGAA	0.567000			T	ROS1	NSCLC									106			61		0	0	0.003610	0	0
FTSJ2	29960	broad.mit.edu	37	7	2274925	2274925	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2274925G>A	uc003slm.3	-	2	602	c.573C>T	c.(571-573)ttC>ttT	p.F191F	MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Silent_p.F37F	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	191					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TTTTACAAAGGAATGTCCCCC	0.542000														153			13		0	0	0.002450	0	0
DSG3	1830	broad.mit.edu	37	18	29054213	29054213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:29054213G>A	uc002kws.3	+	14	2340	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	DSG3_uc002kwt.3_Missense_Mutation_p.G26E	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	744					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)			ACAGTGTCAGGAGCTGCTTCA	0.537000														25			15		0	0	0.002450	0	0
CDK20	23552	broad.mit.edu	37	9	90586062	90586062	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:90586062C>T	uc004apr.3	-	3	712	c.378_splice	c.e3+1	p.R126_splice	CDK20_uc004aps.3_Splice_Site_p.R126_splice|CDK20_uc022bjj.1_Splice_Site_p.R126_splice|CDK20_uc004apt.3_Splice_Site_p.R139_splice|CDK20_uc004apu.3_Splice_Site_p.R126_splice	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	126	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						TGAGACTGACCCGATGTACAA	0.577000														13			8		0	0	0.004482	0	0
SV2C	22987	broad.mit.edu	37	5	75428043	75428043	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:75428043C>T	uc003kei.1	+	1	602	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	156					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCCTTTTCTTCGTCCTGGGCA	0.507000														72			59		0	0	0.003610	0	0
QRICH1	54870	broad.mit.edu	37	3	49070589	49070589	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:49070589G>A	uc010hkq.3	-	7	2155	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	QRICH1_uc003cvu.3_Missense_Mutation_p.S620F|QRICH1_uc003cvv.3_Missense_Mutation_p.S620F	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	620										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAAGGTGGAGGGGGAGTG	0.517000														61			18		0	0	0.001882	0	0
EFCAB6	64800	broad.mit.edu	37	22	44168800	44168800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:44168800C>T	uc003bdy.2	-	3	637	c.323G>A	c.(322-324)cGa>cAa	p.R108Q	EFCAB6_uc003bdz.2_Intron|EFCAB6_uc010gzi.2_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R105Q|EFCAB6_uc003beb.4_Intron	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AAACTGTTCTCGTGTGAGCGG	0.463000														20			21		0	0	0.002299	0	0
E4F1	1877	broad.mit.edu	37	16	2284186	2284186	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2284186G>C	uc002cpm.3	+	9	1438	c.1390G>C	c.(1390-1392)Gcc>Ccc	p.A464P	E4F1_uc010bsi.3_Missense_Mutation_p.A464P|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	464	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCGTTCGCCTGCGCGCA	0.706000														18			10		0	0	0.008291	0	0
RGPD4	285190	broad.mit.edu	37	2	108488640	108488640	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:108488640C>T	uc010ywk.2	+	19	4262	c.4180C>T	c.(4180-4182)Cgt>Tgt	p.R1394C	RGPD4_uc002tdu.3_Missense_Mutation_p.R581C|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1394	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGCAAGTTCGTATAGTGAT	0.358000														148			99		0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39782178	39782178	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:39782178G>A	uc021olt.1	+	26	3632	c.3580G>A	c.(3580-3582)Gag>Aag	p.E1194K	MACF1_uc021ols.1_Missense_Mutation_p.E1194K|MACF1_uc001cdc.2_Missense_Mutation_p.E1194K|MACF1_uc001cda.1_Missense_Mutation_p.E1102K|MACF1_uc009vvq.1_Missense_Mutation_p.E251K|MACF1_uc001cdb.1_Missense_Mutation_p.E281K	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1194					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)			CTCAGCTCTGGAGGCCCATTG	0.433000														79			47		0	0	0.003610	0	0
SCRIB	23513	broad.mit.edu	37	8	144893232	144893232	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:144893232G>A	uc003yzp.1	-	10	1124	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	SCRIB_uc003yzo.1_Silent_p.L373L	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	373	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCGAACGGCAGACTCTGCAGG	0.692000														24			6		0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133899220	133899220	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:133899220C>T	uc003ytw.3	+	8	1644	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	535					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)		CACAGGAACCCCTGAAGCTGC	0.448000														70			12		0	0	0.002450	0	0
DEPDC5	9681	broad.mit.edu	37	22	32211046	32211046	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:32211046C>T	uc011alu.2	+	20	1716	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	DEPDC5_uc011als.2_Missense_Mutation_p.S505F|DEPDC5_uc003als.3_Missense_Mutation_p.S505F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.S505F|DEPDC5_uc003alr.2_Missense_Mutation_p.S505F|DEPDC5_uc011alt.2_Missense_Mutation_p.S477F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	505					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCCAGCCCTTCCCTACCAAGC	0.552000														56			18		0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9082689	9082689	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9082689G>A	uc002mkp.3	-	0	9330	c.9126C>T	c.(9124-9126)ttC>ttT	p.F3042F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3043	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						TGGGGGAAAGGAAGCTTGTTT	0.483000														52			26		0	0	0.003954	0	0
SRF	6722	broad.mit.edu	37	6	43146877	43146877	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43146877C>T	uc003oui.3	+	6	1951	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	SRF_uc011dvf.2_Silent_p.T288T	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	492					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAACCTCACCGAGCTACAGG	0.622000														76			16		0	0	0.006122	0	0
LRRC31	79782	broad.mit.edu	37	3	169557848	169557848	+	Silent	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:169557848A>T	uc003fgc.1	-	8	1646	c.1581T>A	c.(1579-1581)gcT>gcA	p.A527A	LRRC31_uc010hwp.1_Silent_p.A471A	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	527										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTCCTGTGAAGCTGGGAGAA	0.398000														38			8		0	0	0.003080	0	0
NLRP11	204801	broad.mit.edu	37	19	56303677	56303677	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:56303677C>T	uc010ygf.2	-	8	3214	c.2503G>A	c.(2503-2505)Gag>Aag	p.E835K	NLRP11_uc002qlz.3_Missense_Mutation_p.E682K|NLRP11_uc002qmb.3_Missense_Mutation_p.E736K|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	835							ATP binding	p.E835Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGAAGCTCCTCTAACTGACAG	0.488000														87			30		0	0	0.004878	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998711	27998711	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:27998711G>A	uc004dbx.1	-	0	856	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	247										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGTTAGGAAAGAACTTAGCCT	0.473000														4			25		0	0	0.008361	0	0
PPL	5493	broad.mit.edu	37	16	4941922	4941922	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:4941922T>G	uc002cyd.1	-	15	1948	c.1858A>C	c.(1858-1860)Agc>Cgc	p.S620R		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	620					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGCAGGCTCTTCTCCAGG	0.627000														50			34		0	0	0.004289	0	0
IL7R	3575	broad.mit.edu	37	5	35876214	35876214	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:35876214G>A	uc003jjs.3	+	7	1095	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	336					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)			AGAAGAATCTGAGAAGCAGAG	0.478000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							40			14		0	0	0.004007	0	0
PCDH18	54510	broad.mit.edu	37	4	138442737	138442737	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:138442737C>T	uc003ihe.4	-	3	3241	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	PCDH18_uc003ihf.4_Missense_Mutation_p.E944K|PCDH18_uc011cgz.2_Missense_Mutation_p.E163K|PCDH18_uc003ihg.4_Missense_Mutation_p.E731K|PCDH18_uc011cha.2_Missense_Mutation_p.E132K	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	952	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G951E(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)					GGGAATTCTTCCCCTGGAATG	0.532000														53			41		0	0	0.007835	0	0
ZNF836	162962	broad.mit.edu	37	19	52658279	52658279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:52658279C>T	uc010ydj.2	-	4	3179	c.2657G>A	c.(2656-2658)gGa>gAa	p.G886E	ZNF836_uc010ydi.2_Missense_Mutation_p.G886E	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	886					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						AGGTTTTTCTCCAGAATGAAT	0.393000														31			21		0	0	0.002299	0	0
LHX4	89884	broad.mit.edu	37	1	180240974	180240974	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:180240974G>A	uc001goe.2	+	4	843	c.611G>A	c.(610-612)tGg>tAg	p.W204*	LOC100527964_uc001gof.2_Non-coding_Transcript	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TGGCAGGTTTGGTTTCAGAAC	0.607000														159			37		0	0	0.007835	0	0
C3orf20	84077	broad.mit.edu	37	3	14745926	14745926	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:14745926C>T	uc003byy.3	+	6	1413	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	C3orf20_uc003byz.3_Missense_Mutation_p.H199Y|C3orf20_uc003bza.3_Missense_Mutation_p.H199Y|C3orf20_uc003byx.2_Intron	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	321						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GATGCCCTCTCATCTAATGTT	0.527000														84			36		0	0	0.004289	0	0
RANBP2	5903	broad.mit.edu	37	2	109383770	109383770	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:109383770C>T	uc002tem.4	+	19	6901	c.6775C>T	c.(6775-6777)Cgt>Tgt	p.R2259C		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2259					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding	p.R2259L(1)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAATCTTTTCCGTTTTGGTGA	0.403000														160			113		0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32554872	32554872	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:32554872G>A	uc002yow.1	-	15	3225	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	TIAM1_uc011adk.1_Missense_Mutation_p.P918L|TIAM1_uc011adl.1_Missense_Mutation_p.P858L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	918					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCCAGCGAGGGCTGTGAGAG	0.597000														47			24		0	0	0.003330	0	0
RIMS2	9699	broad.mit.edu	37	8	104898211	104898211	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:104898211C>T	uc003yls.3	+	1	959	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RIMS2_uc003ylp.3_Missense_Mutation_p.P462S|RIMS2_uc003ylw.2_Missense_Mutation_p.P270S|RIMS2_uc003ylq.3_Missense_Mutation_p.P270S|RIMS2_uc003ylr.3_Missense_Mutation_p.P270S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	493					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCACTTAGATCCTAGCTCTGC	0.468000										HNSCC(12;0.0054)				81			22		0	0	0.001882	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64132833	64132833	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:64132833C>T	uc001oae.3	+	8	1050	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	RPS6KA4_uc001oad.3_Missense_Mutation_p.R323C|RPS6KA4_uc010rnl.2_Missense_Mutation_p.R260C|RPS6KA4_uc001oaf.3_Missense_Mutation_p.R323C|RPS6KA4_uc009ypp.3_Missense_Mutation_p.R323C	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	323	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GCCCCAAATCCGCTCAGAGCT	0.622000														23			15		0	0	0.003163	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482458	152482458	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:152482458C>T	uc022chs.1	-	0	553	c.553G>A	c.(553-555)Gat>Aat	p.D185N	MAGEA1_uc004fhf.2_Missense_Mutation_p.D185N	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	185	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTGATTATCACCCAGCAGG	0.547000														6			42		0	0	0.003610	0	0
PRDM7	11105	broad.mit.edu	37	16	90142339	90142339	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:90142339G>A	uc010cje.3	-	1	1	c.-19_splice	c.e1-1		PRDM7_uc010cjf.3_Splice_Site|PRDM7_uc010cjh.1_Splice_Site	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.							chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGTCTAGAAGGCCCTGCTCC	0.587000														17			8		0	0	0.004482	0	0
C19orf21	126353	broad.mit.edu	37	19	757283	757283	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:757283C>T	uc002lpo.3	+	1	420	c.337C>T	c.(337-339)Cca>Tca	p.P113S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	113										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GGCACTCCGCCCAGAGGACGG	0.672000														15			13		0	0	0.001855	0	0
ZC3H13	23091	broad.mit.edu	37	13	46544079	46544079	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:46544079A>G	uc010tfw.1	-	12	2606	c.2600T>C	c.(2599-2601)gTt>gCt	p.V867A	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.V867A|ZC3H13_uc001vat.1_Missense_Mutation_p.V867A	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	867							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTCGTACAACTTGGCTCAA	0.408000														47			30		0	0	0.007291	0	0
LTBP4	8425	broad.mit.edu	37	19	41129549	41129549	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:41129549G>A	uc002ooh.1	+	28	3795	c.3795G>A	c.(3793-3795)aaG>aaA	p.K1265K	LTBP4_uc002oog.1_Silent_p.K1228K|LTBP4_uc002ooi.1_Silent_p.K1198K|LTBP4_uc002ooj.1_Silent_p.K139K|LTBP4_uc002ook.1_Silent_p.K400K|LTBP4_uc002ool.1_Silent_p.K278K|LTBP4_uc010xvp.1_Silent_p.K26K	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1266	EGF-like 13; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGTGCAAGAGTGGCGTGT	0.592000														11			10		0	0	0.008291	0	0
RAVER1	125950	broad.mit.edu	37	19	10444150	10444151	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:10444150_10444151GG>AA	uc002moa.3	-	0	164_165	c.84_85CC>TT	c.(82-87)cccccg>ccTTcg	p.P29S		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	12						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGGCTCAGCGGGGGCCGGTGAG	0.698000														21			17		0	0	0.004672	0	0
OR6K3	391114	broad.mit.edu	37	1	158686981	158686981	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:158686981C>T	uc021pbn.1	-	0	925	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	325					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTGTTCAACACTTTTTGAAGA	0.393000														121			24		0	0	0.007291	0	0
ZNF679	168417	broad.mit.edu	37	7	63720636	63720636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:63720636C>T	uc003tsx.3	+	2	346	c.77C>T	c.(76-78)tCt>tTt	p.S26F		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F25L(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATAGAATTCTCTCTGGAGGAG	0.418000														29			12		0	0	0.000978	0	0
DENND4C	55667	broad.mit.edu	37	9	19342634	19342634	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:19342634T>G	uc003znq.3	+	16	2233	c.2153T>G	c.(2152-2154)gTg>gGg	p.V718G	DENND4C_uc011lnc.2_Missense_Mutation_p.V48G|DENND4C_uc011lnd.2_Missense_Mutation_p.V6G|DENND4C_uc003znr.3_Missense_Mutation_p.V6G|DENND4C_uc003zns.3_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	718						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTCCAGAGGTGTGTGATGCC	0.378000														33			27		0	0	0.008361	0	0
CDC14B	8555	broad.mit.edu	37	9	99296774	99296774	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:99296774G>A	uc004awj.3	-	7	1130	c.678C>T	c.(676-678)gcC>gcT	p.A226A	CDC14B_uc004awk.3_Silent_p.A226A|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Silent_p.A189A	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	226	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GTCCACAGAAGGCAATAAATC	0.348000														24			14		0	0	0.004990	0	0
ADAM12	8038	broad.mit.edu	37	10	127755327	127755328	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:127755327_127755328CC>TT	uc001ljk.2	-	12	1793_1794	c.1380_1381GG>AA	c.(1378-1383)ccggac>ccAAac	p.D461N	ADAM12_uc010qul.1_Missense_Mutation_p.D412N|ADAM12_uc001ljm.3_Missense_Mutation_p.D461N|ADAM12_uc001ljn.3_Missense_Mutation_p.D458N|ADAM12_uc001ljl.4_Missense_Mutation_p.D458N	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	461	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACACAGCGTCCGGCTTCAGGG	0.550000														18			11		0	0	0.004672	0	0
BCL2L14	79370	broad.mit.edu	37	12	12247624	12247624	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:12247624C>A	uc001rac.3	+	4	906	c.705C>A	c.(703-705)ggC>ggA	p.G235G	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.G235G|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	235					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTTGATGGGCCACTTCCAGG	0.493000														61			49		2.31418e-15	3.46757e-15	0.003610	1	0
SEC24B	10427	broad.mit.edu	37	4	110447419	110447419	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:110447419C>T	uc003hzk.3	+	16	2884	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	SEC24B_uc003hzl.3_Silent_p.V908V|SEC24B_uc011cfp.2_Silent_p.V973V|SEC24B_uc011cfq.2_Silent_p.V942V|SEC24B_uc011cfr.2_Silent_p.V907V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	943					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACTTCTTTGTCCGTTCTACTG	0.353000														72			42		0	0	0.002852	0	0
ZNF558	148156	broad.mit.edu	37	19	8931904	8931904	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:8931904G>A	uc002mkn.1	-	2	429	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.L67L	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCCCTGTACAGTGTCCTTTGG	0.517000														19			20		0	0	0.008871	0	0
TRANK1	9881	broad.mit.edu	37	3	36874255	36874255	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:36874255G>A	uc003cgj.3	-	20	6935	c.6687C>T	c.(6685-6687)ttC>ttT	p.F2229F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2229					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AATGCTTAGGGAAAAGGACAT	0.368000														72			36		0	0	0.004289	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560546	44560546	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:44560546G>A	uc002lcr.1	-	0	1443	c.1090C>T	c.(1090-1092)Ctc>Ttc	p.L364F	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	364					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACCTCAGAGAGGGAGCTCACG	0.542000														35			31		0	0	0.002836	0	0
USP9X	8239	broad.mit.edu	37	X	41075159	41075159	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:41075159C>T	uc004dfb.3	+	34	5972	c.5339C>T	c.(5338-5340)aCc>aTc	p.T1780I	USP9X_uc004dfc.3_Missense_Mutation_p.T1780I	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1780					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.K1780*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGGTTGATACCGTAAAGCGC	0.323000														1			12		0	0	0.003163	0	0
PRSS35	167681	broad.mit.edu	37	6	84234162	84234162	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:84234162C>T	uc003pjz.3	+	1	1242	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	PRSS35_uc010kbm.3_Silent_p.L334L|PRSS35_uc021zce.1_Silent_p.L334L	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	334	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCAATGATCTCCTTTACCAAT	0.473000														39			37		0	0	0.006999	0	0
TRIM38	10475	broad.mit.edu	37	6	25983665	25983665	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:25983665G>T	uc003nfm.3	+	7	1583	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	TRIM38_uc010jqd.3_Missense_Mutation_p.W19L	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	383	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TCTGGATTCTGGACCCTCAGG	0.502000														153			6		0.00116845	0.0017334	0.001168	1	0
ENTPD6	955	broad.mit.edu	37	20	25203577	25203577	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:25203577C>T	uc002wuj.2	+	11	1329	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	ENTPD6_uc002wum.2_Silent_p.S366S|ENTPD6_uc010zta.1_Silent_p.S383S|ENTPD6_uc002wuk.2_Silent_p.S382S|ENTPD6_uc002wul.2_Silent_p.S382S|ENTPD6_uc010ztb.1_Silent_p.S355S|ENTPD6_uc010ztc.1_Silent_p.S355S|ENTPD6_uc002wuo.2_Silent_p.S135S|ENTPD6_uc010zsz.1_Silent_p.S165S|ENTPD6_uc010ztd.1_Silent_p.S131S|ENTPD6_uc010gdl.1_Non-coding_Transcript|ENTPD6_uc010gdk.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	383						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ATGCTTTCTCCTACTATTACG	0.607000														142			34		0	0	0.002222	0	0
FAM221B	392307	broad.mit.edu	37	9	35825615	35825615	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:35825615C>T	uc010mlc.2	-	1	829	c.544G>A	c.(544-546)Gga>Aga	p.G182R	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.G182R	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	182										endometrium(2)|kidney(1)|lung(4)	7						GCATCTACTCCCTTTTCAACC	0.502000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			40		0	0	0.007835	0	0
GSTP1	2950	broad.mit.edu	37	11	67353865	67353865	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:67353865C>T	uc001omf.3	+	6	699	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	150	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	TGCAGATCTCCTTCGCTGACT	0.642000														57			15		0	0	0.004990	0	0
GLRX3	10539	broad.mit.edu	37	10	131958313	131958313	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:131958313C>T	uc001lkn.2	+	2	302	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	GLRX3_uc001lkm.2_Missense_Mutation_p.P86S|GLRX3_uc001lko.3_Non-coding_Transcript|GLRX3_uc021qay.1_5'UTR	NM_001199868	NP_001186797	O76003	GLRX3_HUMAN	Homo sapiens glutaredoxin 3 (GLRX3), transcript variant 1, mRNA.	86	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		TAGCTCTGTTCCCACTTTTCT	0.358000														65			39		0	0	0.002522	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570692	47570693	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:47570692_47570693GG>AA	uc002pga.4	-	14	2870_2871	c.2832_2833CC>TT	c.(2830-2835)ctcccc>ctTTcc	p.P945S	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	945							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGTGCCCGGGGAGTGGGTCCA	0.683000														66			43		0	0	0.004672	0	0
SLC13A2	9058	broad.mit.edu	37	17	26823500	26823500	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:26823500C>T	uc010wan.2	+	10	1717	c.1650C>T	c.(1648-1650)gtC>gtT	p.V550V	SLC13A2_uc010wam.2_Silent_p.V457V|SLC13A2_uc002hbh.3_Silent_p.V501V|SLC13A2_uc010wao.2_Silent_p.V458V|SLC13A2_uc002hbi.3_Silent_p.V430V	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	501			I -> V (in dbSNP:rs11567842).			integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.I550V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTCTCTACGTCATGCTCCCCT	0.642000														95			39		0	0	0.006230	0	0
GRIK3	2899	broad.mit.edu	37	1	37285408	37285408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:37285408G>A	uc001caz.2	-	11	1937	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	GRIK3_uc001cba.1_Missense_Mutation_p.S601F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	601					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CACCACCTCGGAGCCAGGGTT	0.577000														12			7		0	0	0.003080	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150621114	150621114	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:150621114G>A	uc001evj.2	-	4	758	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	GOLPH3L_uc010pci.1_Silent_p.L137L	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	181						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCAAATAGCAGGAAATTCTGC	0.418000														17			50		0	0	0.003610	0	0
HIRA	7290	broad.mit.edu	37	22	19384456	19384456	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:19384456G>A	uc002zpf.1	-	6	728	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	HIRA_uc011agx.1_Silent_p.L36L|HIRA_uc010grn.1_Silent_p.L170L|HIRA_uc010gro.2_Silent_p.L126L|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	170					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGACCTCTCAGAGTAGCTAGA	0.478000														77			17		0	0	0.007413	0	0
AARS	16	broad.mit.edu	37	16	70286801	70286801	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:70286801G>A	uc002eyn.1	-	20	2840	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Silent_p.A756A	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	910					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGCCCCGATTGGCTGCATTCT	0.557000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			19		0	0	0.008871	0	0
KIAA1045	23349	broad.mit.edu	37	9	34972419	34972419	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:34972419G>A	uc003zvq.3	+	2	633	c.455G>A	c.(454-456)aGg>aAg	p.R152K	KIAA1045_uc003zvr.3_Missense_Mutation_p.R152K	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	152							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GTCTGCACCAGGGTTTTCCAT	0.572000														60			39		0	0	0.002222	0	0
D4S234E	27065	broad.mit.edu	37	4	4411407	4411407	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:4411407C>T	uc011bvz.2	+	6	1635	c.354C>T	c.(352-354)ctC>ctT	p.L118L	D4S234E_uc011bwa.1_Silent_p.L79L|D4S234E_uc003ghz.3_Silent_p.L118L|D4S234E_uc003gia.3_Silent_p.L118L	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	118					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	p.V117I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTTCGTCCTCAAGGTAAAAC	0.597000														94			21		0	0	0.002299	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683279	48683279	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:48683279C>T	uc002irk.1	+	22	4689	c.4317C>T	c.(4315-4317)ttC>ttT	p.F1439F	CACNA1G_uc002iri.1_Silent_p.F1439F|CACNA1G_uc002irj.1_Silent_p.F1416F|CACNA1G_uc002irl.1_Silent_p.F1416F|CACNA1G_uc002irm.1_Silent_p.F1416F|CACNA1G_uc002irn.1_Silent_p.F1416F|CACNA1G_uc002iro.1_Silent_p.F1416F|CACNA1G_uc002irp.1_Silent_p.F1439F|CACNA1G_uc002irq.1_Silent_p.F1416F|CACNA1G_uc002irr.1_Silent_p.F1439F|CACNA1G_uc002irs.1_Silent_p.F1439F|CACNA1G_uc002irt.1_Silent_p.F1439F|CACNA1G_uc002iru.1_Silent_p.F1416F|CACNA1G_uc002irv.1_Silent_p.F1439F|CACNA1G_uc002irw.1_Silent_p.F1416F|CACNA1G_uc002irx.1_Silent_p.F1352F|CACNA1G_uc002iry.1_Silent_p.F1352F|CACNA1G_uc002isg.1_Silent_p.F1352F|CACNA1G_uc002ish.1_Silent_p.F1352F|CACNA1G_uc002isi.1_Silent_p.F1329F|CACNA1G_uc002irz.1_Silent_p.F1352F|CACNA1G_uc002isa.1_Silent_p.F1352F|CACNA1G_uc002isd.1_Silent_p.F1352F|CACNA1G_uc002isb.1_Silent_p.F1352F|CACNA1G_uc002isc.1_Silent_p.F1352F|CACNA1G_uc002ise.1_Silent_p.F1352F|CACNA1G_uc002isf.1_Silent_p.F1352F|CACNA1G_uc002isj.3_Silent_p.F163F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1439					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)	GGAAGTTTTTCGTGTGCCAGG	0.552000														26			32		0	0	0.003755	0	0
C2orf65	130951	broad.mit.edu	37	2	74787386	74787386	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:74787386G>A	uc002smy.3	-	8	1431	c.1314C>T	c.(1312-1314)acC>acT	p.T438T	C2orf65_uc010ysa.2_Silent_p.T438T|C2orf65_uc010ffp.3_Silent_p.T87T	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	438					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						AGGGGTTGTAGGTGGGCTCCA	0.572000														27			50		0	0	0.003610	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:105367188C>T	uc003ylx.1	+	2	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000														79			35		0	0	0.003271	0	0
PDZD2	23037	broad.mit.edu	37	5	32000310	32000310	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:32000310C>T	uc003jhl.3	+	4	1575	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	PDZD2_uc003jhm.3_Missense_Mutation_p.S396F|PDZD2_uc011cnx.1_Missense_Mutation_p.S222F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	396	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCGGGCTCTCCCACGAGGAA	0.532000														29			45		0	0	0.003610	0	0
ILDR2	387597	broad.mit.edu	37	1	166896407	166896407	+	Silent	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:166896407A>G	uc001gdx.2	-	6	947	c.891T>C	c.(889-891)ggT>ggC	p.G297G		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	297						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGATCCGGTAACCTTTGCGAA	0.453000														41			95		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26224752	26224752	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:26224752C>T	uc003abz.1	+	14	3046	c.2796C>T	c.(2794-2796)tcC>tcT	p.S932S	MYO18B_uc003aca.1_Silent_p.S813S|MYO18B_uc010guy.1_Silent_p.S813S|MYO18B_uc010guz.1_Silent_p.S813S|MYO18B_uc011aka.1_Silent_p.S86S|MYO18B_uc011akb.1_Silent_p.S445S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	932	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GATCCTTTTCCTCCCACCATC	0.567000														18			17		0	0	0.007413	0	0
TGFBI	7045	broad.mit.edu	37	5	135389719	135389719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:135389719C>T	uc003lbf.4	+	8	1375	c.1214C>T	c.(1213-1215)tCt>tTt	p.S405F	TGFBI_uc003lbg.4_Missense_Mutation_p.S138F|TGFBI_uc003lbh.4_Missense_Mutation_p.S231F|TGFBI_uc011cyb.2_Missense_Mutation_p.S231F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	405	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCATCTCTCTGGAAGTGAG	0.517000														88			73		0	0	0.003610	0	0
CRYM	1428	broad.mit.edu	37	16	21272580	21272580	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:21272580G>A	uc002dim.3	-	8	1173	c.875C>T	c.(874-876)tCt>tTt	p.S292F	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.S250F	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	292					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CTTACCCAAAGACTTGAACAC	0.512000														10			8		0	0	0.003080	0	0
ZNF331	55422	broad.mit.edu	37	19	54080919	54080919	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54080919C>T	uc002qbx.1	+	6	2539	c.1105C>T	c.(1105-1107)Cac>Tac	p.H369Y	ZNF331_uc002qby.1_Missense_Mutation_p.H369Y|ZNF331_uc002qbz.1_Missense_Mutation_p.H369Y|ZNF331_uc010eqr.1_Missense_Mutation_p.H369Y|ZNF331_uc002qca.1_Missense_Mutation_p.H369Y|ZNF331_uc021uzg.1_Missense_Mutation_p.H369Y|ZNF331_uc021uzh.1_Missense_Mutation_p.H369Y|ZNF331_uc002qcb.1_Missense_Mutation_p.H369Y|ZNF331_uc002qcc.1_Missense_Mutation_p.H369Y|ZNF331_uc002qcd.1_Missense_Mutation_p.H369Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	369					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)		TTGTGGCTATCACCTCACTCA	0.507000			T	?	follicular thyroid adenoma									31			7		0	0	0.003080	0	0
KIAA1109	84162	broad.mit.edu	37	4	123265596	123265596	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:123265596C>T	uc003ieh.3	+	71	12658	c.12613C>T	c.(12613-12615)Ctt>Ttt	p.L4205F	KIAA1109_uc003iem.3_Missense_Mutation_p.L561F|KIAA1109_uc003ien.3_Missense_Mutation_p.L139F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4205					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGTATAAACCTTGAGTTTGT	0.413000														35			37		0	0	0.004878	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021152	41021152	+	Silent	SNP	G	A	A	rs116667889	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41021152G>A	uc003opl.3	+	0	213	c.66G>A	c.(64-66)gaG>gaA	p.E22E	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	22					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGATCTGGAGAACCTGGACG	0.592000														112			21		0	0	0.003330	0	0
WBP2	23558	broad.mit.edu	37	17	73844682	73844682	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:73844682G>A	uc002jps.3	-	3	489	c.366C>T	c.(364-366)ttC>ttT	p.F122F	WBP2_uc010wsl.2_Silent_p.F88F|WBP2_uc010wsm.2_Silent_p.F122F|WBP2_uc010wsn.1_Intron|WBP2_uc021ude.1_5'Flank	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	Homo sapiens WW domain binding protein 2 (WBP2), mRNA.	122							protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCGCTGTCCGAACTCAATGG	0.512000											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			9		0	0	0.000978	0	0
NEB	4703	broad.mit.edu	37	2	152579941	152579941	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:152579941G>A	uc021vrb.1	-	6	701	c.672C>T	c.(670-672)agC>agT	p.S224S	NEB_uc002txu.3_Silent_p.S224S|NEB_uc021vrc.1_Silent_p.S224S|NEB_uc010fnx.3_Silent_p.S224S|NEB_uc021vrd.1_Silent_p.S224S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	224					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCAGTTCCGGGCTATCATTAT	0.448000														10			4		0	0	0.000248	0	0
TLN1	7094	broad.mit.edu	37	9	35711666	35711666	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:35711666G>A	uc003zxt.2	-	28	4159	c.3805C>T	c.(3805-3807)Cga>Tga	p.R1269*		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1269					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGAGGCTCGAGCCAGGTCC	0.602000														114			47		0	0	0.003610	0	0
CASK	8573	broad.mit.edu	37	X	41416311	41416311	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:41416311G>A	uc004dfk.4	-	13	1351	c.1225C>T	c.(1225-1227)Cat>Tat	p.H409Y	CASK_uc004dfj.4_Intron|CASK_uc004dfl.4_Missense_Mutation_p.H594Y|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	594	L27 2.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTGCTGCTATGACCATTAGCT	0.433000														2			21		0	0	0.006320	0	0
THBS1	7057	broad.mit.edu	37	15	39885722	39885722	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:39885722G>A	uc001zkh.3	+	18	3299	c.3120G>A	c.(3118-3120)tgG>tgA	p.W1040*	THBS1_uc010bbi.3_Nonsense_Mutation_p.W512*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1040	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TTGTGATGTGGAAGCAAGTCA	0.532000														43			33		0	0	0.002836	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011387	34011387	+	Missense_Mutation	SNP	G	T	T	rs149288077	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:34011387G>T	uc002yqh.2	-	30	3863	c.3863C>A	c.(3862-3864)cCg>cAg	p.P1288Q	SYNJ1_uc011ads.1_Missense_Mutation_p.P1202Q|SYNJ1_uc002yqf.2_Missense_Mutation_p.P1233Q|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1202Q|SYNJ1_uc002yqi.2_Missense_Mutation_p.P1288Q|SYNJ1_uc002yqe.4_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1249	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGAAGACTGCGGAGGAAAAGC	0.498000														81			27		6.07407e-21	9.12223e-21	0.007291	1	0
ANKMY1	51281	broad.mit.edu	37	2	241463561	241463561	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:241463561G>A	uc010fzd.1	-	7	1698	c.1573C>T	c.(1573-1575)Ccg>Tcg	p.P525S	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Missense_Mutation_p.P295S|ANKMY1_uc002vyz.1_Missense_Mutation_p.P436S|ANKMY1_uc002vza.1_Missense_Mutation_p.P295S|ANKMY1_uc002vzd.1_Missense_Mutation_p.P295S|ANKMY1_uc010fze.2_Missense_Mutation_p.P105S|ANKMY1_uc002vze.3_Missense_Mutation_p.P197S	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	436							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTCACCAACGGGGAGTCCCCC	0.627000														9			12		0	0	0.001368	0	0
DSP	1832	broad.mit.edu	37	6	7581101	7581101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7581101C>T	uc003mxp.1	+	22	4957	c.4678C>T	c.(4678-4680)Cag>Tag	p.Q1560*	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1560	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CACGCGGTTCCAGAACTCTCT	0.527000														157			29		0	0	0.006320	0	0
FKBP6	8468	broad.mit.edu	37	7	75023525	75023525	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:75023525C>T	uc010ldb.2	-	2	408	c.281G>A	c.(280-282)gGa>gAa	p.G94E	TRIM73_uc011kfw.2_Intron|TRIM73_uc003uda.3_Intron|TRIM73_uc003udc.1_5'Flank|TRIM73_uc010ldc.3_5'Flank			O75344	FKBP6_HUMAN	SubName: Full=Uncharacterized protein;	240	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TTCTCCAGCTCCTACTCTGAA	0.468000														13			14		0	0	0.004007	0	0
GPI	2821	broad.mit.edu	37	19	34868484	34868484	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:34868484C>T	uc002nvf.3	+	5	766	c.596C>T	c.(595-597)tCc>tTc	p.S199F	GPI_uc010xrv.2_Intron|GPI_uc002nvg.2_Missense_Mutation_p.S160F|GPI_uc010xrw.2_Intron	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	160					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					ATTGGCGGCTCCGACCTGGTG	0.592000														95			31		0	0	0.002836	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165332	123165332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:123165332G>A	uc004bkf.3	-	33	5240	c.5059C>T	c.(5059-5061)Ctc>Ttc	p.L1687F	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.L696F|CDK5RAP2_uc004bke.3_Missense_Mutation_p.L972F|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.L1608F|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.L952F|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.L952F|CDK5RAP2_uc011lya.2_Missense_Mutation_p.L952F|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L1457F	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1687					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TTCCCAGAGAGTGGAGGAGTC	0.522000														28			14		0	0	0.003163	0	0
CYFIP2	26999	broad.mit.edu	37	5	156757855	156757855	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:156757855C>T	uc021ygm.1	+	19	2397	c.2259C>T	c.(2257-2259)gtC>gtT	p.V753V	CYFIP2_uc011ddn.2_Silent_p.V728V|CYFIP2_uc011ddo.2_Silent_p.V558V|CYFIP2_uc021ygn.1_Silent_p.V753V|CYFIP2_uc021ygo.1_Silent_p.V753V|CYFIP2_uc003lwt.3_Silent_p.V657V|CYFIP2_uc011ddp.2_Silent_p.V488V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	779					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGACACGTCCAGGTATGGG	0.498000														251			60		0	0	0.003610	0	0
FAM65A	79567	broad.mit.edu	37	16	67578895	67578895	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:67578895C>T	uc010vjp.2	+	16	3152	c.2966C>T	c.(2965-2967)aCc>aTc	p.T989I	FAM65A_uc002eth.3_Missense_Mutation_p.T969I|FAM65A_uc010cej.3_Missense_Mutation_p.T973I|FAM65A_uc010vjq.2_Missense_Mutation_p.T983I|FAM65A_uc002etk.3_Missense_Mutation_p.T967I	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	973						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGCTTCCTGACCTTCTGGGAC	0.617000														136			45		0	0	0.002852	0	0
GPR97	222487	broad.mit.edu	37	16	57719662	57719662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:57719662G>A	uc002emh.3	+	10	1467	c.1364G>A	c.(1363-1365)tGg>tAg	p.W455*	GPR97_uc010vhv.2_Nonsense_Mutation_p.W335*|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Nonsense_Mutation_p.W63*	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	455					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGGTGGTCTGGAAGATCTTC	0.597000														25			14		0	0	0.001855	0	0
C12orf63	374467	broad.mit.edu	37	12	97073463	97073463	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:97073463C>T	uc021rcc.1	+	6	1002	c.924C>T	c.(922-924)tcC>tcT	p.S308S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	308										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGGAAAAATCCAAATACCATA	0.428000														83			46		0	0	0.002522	0	0
PKLR	5313	broad.mit.edu	37	1	155264450	155264450	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:155264450C>T	uc001fkb.4	-	5	827	c.788G>A	c.(787-789)gGg>gAg	p.G263E	PKLR_uc001fka.4_Missense_Mutation_p.G232E	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	263			G -> R (in PKRD).|G -> W (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCGGACAGCCCGGGCAAGTC	0.677000														9			22		0	0	0.002299	0	0
GABRB2	2561	broad.mit.edu	37	5	160721399	160721399	+	Missense_Mutation	SNP	C	T	T	rs148772321		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:160721399C>T	uc003lys.1	-	10	1446	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	GABRB2_uc011deh.1_Missense_Mutation_p.E211K|GABRB2_uc003lyr.1_Missense_Mutation_p.E372K|GABRB2_uc003lyt.1_Missense_Mutation_p.E372K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	410					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTTTATCTCGAGAGTGCTC	0.463000														74			44		0	0	0.003610	0	0
CCDC66	285331	broad.mit.edu	37	3	56627978	56627979	+	Missense_Mutation	DNP	CC	TT	TT	rs140193610		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:56627978_56627979CC>TT	uc003dhz.3	+	9	1413_1414	c.1326_1327CC>TT	c.(1324-1329)ctccgt>ctTTgt	p.R443C	CCDC66_uc003dhy.3_Missense_Mutation_p.R79C|CCDC66_uc003dhu.3_Missense_Mutation_p.R409C|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	443										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CCAGCTTTCTCCGTTCTATGAC	0.361000														45			13		0	0	0.004672	0	0
LMAN2L	81562	broad.mit.edu	37	2	97400219	97400219	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:97400219G>A	uc002swv.3	-	2	387	c.351C>T	c.(349-351)atC>atT	p.I117I	LMAN2L_uc002swu.3_Silent_p.I117I|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_5'UTR|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_5'UTR|LMAN2L_uc010yux.2_5'UTR	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	117	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	ER to Golgi transport vesicle|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTTGTCCATGGATTTTGAAGT	0.463000														54			42		0	0	0.008740	0	0
ASXL3	80816	broad.mit.edu	37	18	31325147	31325147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:31325147C>T	uc010dmg.1	+	11	5390	c.5335C>T	c.(5335-5337)Cca>Tca	p.P1779S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1486S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGGCTTCCATTGCCTCT	0.498000														20			26		0	0	0.004656	0	0
JSRP1	126306	broad.mit.edu	37	19	2252382	2252382	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:2252382C>T	uc002lvj.2	-	6	1013	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	314	Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				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)		GCCGCTGCTCCTCGTCGGGAC	0.761000														3			5		0	0	0.000602	0	0
THSD7A	221981	broad.mit.edu	37	7	11468645	11468645	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:11468645G>A	uc021zzo.1	-	13	3424	c.3172C>T	c.(3172-3174)Cgt>Tgt	p.R1058C	THSD7A_uc021zzn.1_Missense_Mutation_p.R1058C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1058	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATTTAGAACGAACCTTCACA	0.512000										HNSCC(18;0.044)				174			48		0	0	0.003610	0	0
GBF1	8729	broad.mit.edu	37	10	104103904	104103904	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:104103904C>T	uc001kux.2	+	3	554	c.260C>T	c.(259-261)aCc>aTc	p.T87I	GBF1_uc001kuw.3_Missense_Mutation_p.T87I|GBF1_uc001kuy.2_Missense_Mutation_p.T87I|GBF1_uc001kuz.2_Missense_Mutation_p.T87I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	87					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGGCACTCACCTCTGTCAAC	0.498000														52			33		0	0	0.003271	0	0
ACTL9	284382	broad.mit.edu	37	19	8808449	8808449	+	Silent	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:8808449C>A	uc002mkl.2	-	0	724	c.603G>T	c.(601-603)ggG>ggT	p.G201G		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	201						cytoplasm|cytoskeleton				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						TGTAGGTGACCCCGTGTCCCG	0.667000														18			11		1.58986e-06	2.37359e-06	0.008291	1	0
RIN2	54453	broad.mit.edu	37	20	19956093	19956093	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:19956093C>T	uc002wro.2	+	7	1720	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.P269L	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	475					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ACCATGGCGCCCCCCATCAAG	0.587000														56			12		0	0	0.001368	0	0
ANK3	288	broad.mit.edu	37	10	61835777	61835777	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:61835777G>A	uc001jky.3	-	36	5200	c.4862C>T	c.(4861-4863)tCc>tTc	p.S1621F	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.	1621	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S1621S(1)		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						GGTTCGAGAGGAAAACGTAGA	0.478000														32			24		0	0	0.003954	0	0
MUC2	4583	broad.mit.edu	37	11	1102137	1102137	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:1102137G>A	uc001lsx.1	+	45	7788	c.7761G>A	c.(7759-7761)gtG>gtA	p.V2587V		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4953						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGGACAAGGTGGACAACAACA	0.617000														22			21		0	0	0.002299	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131177	38131177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:38131177G>A	uc003atr.3	+	8	5105	c.4834G>A	c.(4834-4836)Gag>Aag	p.E1612K	TRIOBP_uc003atu.3_Missense_Mutation_p.E1440K	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1612					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTTAGGGCCAGAGCTGGGTCC	0.672000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			83		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100679002	100679002	+	Silent	SNP	A	G	G	rs142375735		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:100679002A>G	uc003uxp.1	+	2	4358	c.4305A>G	c.(4303-4305)tcA>tcG	p.S1435S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1435	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCCACTTCATCTCCTACAA	0.522000														117			72		0	0	0.003610	0	0
CDHR1	92211	broad.mit.edu	37	10	85972966	85972966	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:85972966C>T	uc001kcv.3	+	15	2007	c.1902C>T	c.(1900-1902)tcC>tcT	p.S634S	CDHR1_uc001kcw.3_Silent_p.S634S|CDHR1_uc009xst.3_Silent_p.S338S|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	634	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCAAGAATTCCATCCGCTCCC	0.582000														36			30		0	0	0.001786	0	0
PADI4	23569	broad.mit.edu	37	1	17657546	17657546	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:17657546A>C	uc001baj.2	+	1	203	c.175A>C	c.(175-177)Aag>Cag	p.K59Q	PADI4_uc009vpc.2_Missense_Mutation_p.K59Q	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	59					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCTCCAGCCAAGAAGAAATC	0.602000														36			18		0	0	0.007413	0	0
CLIC1	1192	broad.mit.edu	37	6	31700063	31700063	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31700063C>T	uc003nwr.3	-	4	759	c.495G>A	c.(493-495)agG>agA	p.R165R	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	165	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						CCAAAAACTTCCTCTGAGAGA	0.488000														727			176		0	0	0.003610	0	0
TNF	7124	broad.mit.edu	37	6	31543539	31543539	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31543539C>T	uc003nui.3	+	0	190	c.21C>T	c.(19-21)atC>atT	p.I7I	TNF_uc003nuj.3_5'Flank	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	7					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	AAAGCATGATCCGGGACGTGG	0.622000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					324			24		0	0	0.004656	0	0
WDR91	29062	broad.mit.edu	37	7	134889048	134889048	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:134889048G>A	uc003vsp.2	-	5	925	c.863C>T	c.(862-864)tCg>tTg	p.S288L	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_5'UTR	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	288										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTTCTTGGCCGAGCTCTGAGG	0.592000														27			15		0	0	0.006122	0	0
CNTN3	5067	broad.mit.edu	37	3	74313648	74313648	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:74313648C>T	uc003dpm.1	-	21	3071	c.2991G>A	c.(2989-2991)atG>atA	p.M997I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	997					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTCTTGCATCCATACCTGTCA	0.398000														37			14		0	0	0.002450	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150944	38150944	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:38150944C>T	uc003atr.3	+	12	5711	c.5440C>T	c.(5440-5442)Ctg>Ttg	p.L1814L	TRIOBP_uc003atu.3_Silent_p.L1642L|TRIOBP_uc003atv.3_Silent_p.L101L|TRIOBP_uc003atw.3_Silent_p.L101L|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.3_5'Flank	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1814	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TTGGTTTGTGCTGACAGATTC	0.547000														98			11		0	0	0.001368	0	0
TM9SF4	9777	broad.mit.edu	37	20	30747839	30747839	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:30747839C>T	uc002wxj.2	+	15	1849	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	TM9SF4_uc010zts.1_Silent_p.F445F|TM9SF4_uc002wxk.2_Silent_p.F521F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	538						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTTCCTGTTCCTTGTTTTCA	0.542000														62			24		0	0	0.002780	0	0
GRPEL2	134266	broad.mit.edu	37	5	148727857	148727858	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:148727857_148727858AC>TT	uc003lqj.3	+	1	226_227	c.100_101AC>TT	c.(100-102)act>TTt	p.T34F	GRPEL2_uc011dca.2_Missense_Mutation_p.T34F	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	34					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCATTCAGCACTGCCACCCAG	0.510000														73			56		0	0	0.004672	0	0
MYO18B	84700	broad.mit.edu	37	22	26242163	26242163	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:26242163G>A	uc003abz.1	+	18	3715	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	MYO18B_uc003aca.1_Silent_p.Q1036Q|MYO18B_uc010guy.1_Silent_p.Q1037Q|MYO18B_uc010guz.1_Silent_p.Q1036Q|MYO18B_uc011aka.1_Silent_p.Q309Q|MYO18B_uc011akb.1_Silent_p.Q668Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1155	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCCCTGCAGAGGAGCCGCA	0.672000														12			7		0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82544134	82544134	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:82544134C>T	uc003uhx.2	-	6	13457	c.13168G>A	c.(13168-13170)Gat>Aat	p.D4390N	PCLO_uc003uhv.2_Missense_Mutation_p.D4390N|PCLO_uc010lec.3_Missense_Mutation_p.D1355N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4321					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						CCAAACTGATCCCTGGTGTCT	0.522000														18			18		0	0	0.006122	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530636	80530636	+	Silent	SNP	G	A	A	rs138746641		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:80530636G>A	uc021vjt.1	-	0	309	c.309C>T	c.(307-309)tcC>tcT	p.S103S	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.S103S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	103						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCCCTGCACGGAGCAGATGT	0.592000										HNSCC(69;0.2)				82			37		0	0	0.006230	0	0
KIF14	9928	broad.mit.edu	37	1	200571082	200571082	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:200571082G>A	uc010ppk.1	-	10	2533	c.2094C>T	c.(2092-2094)gcC>gcT	p.A698A	KIF14_uc010ppj.1_Silent_p.A207A	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	698					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTATTAAACGGGCTTGGTTAG	0.353000														111			28		0	0	0.002096	0	0
DAAM2	23500	broad.mit.edu	37	6	39847148	39847149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:39847148_39847149CC>TT	uc003oow.3	+	13	1879_1880	c.1740_1741CC>TT	c.(1738-1743)cccctc>ccTTtc	p.L581F	DAAM2_uc010jxc.3_Missense_Mutation_p.L581F|DAAM2_uc003oox.3_Missense_Mutation_p.L581F	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	581	FH1.|Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.L581F(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGGGCCTGCCCCTCCCTCAGGA	0.658000														66			5		0	0	0.004672	0	0
DOCK3	1795	broad.mit.edu	37	3	51349912	51349912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:51349912G>A	uc011bds.2	+	29	3122	c.3099G>A	c.(3097-3099)tgG>tgA	p.W1033*		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1033						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCTAGGTGTGGAATTCTTACT	0.378000														45			20		0	0	0.001523	0	0
MIR568	693153	broad.mit.edu	37	3	114035333	114035333	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:114035333C>T	uc003ebh.2	-	0		c.84G>A								Homo sapiens microRNA 568 (MIR568), microRNA.																		atatacacacctatacatgta	0.303000														11			5		0	0	0.000602	0	0
HECTD3	79654	broad.mit.edu	37	1	45476265	45476265	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:45476265G>A	uc009vxk.3	-	1	581	c.483C>T	c.(481-483)ctC>ctT	p.L161L	HECTD3_uc001cmy.4_5'Flank|HECTD3_uc010olh.2_Intron|UROD_uc010oli.2_5'Flank|UROD_uc001cna.2_5'Flank|UROD_uc001cnb.2_5'Flank|UROD_uc010olj.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	161					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GCTGCCGCTGGAGGTGGTTGG	0.692000														24			9		0	0	0.004482	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				2			44		0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754364	49754364	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:49754364C>T	uc003ozu.3	-	0	690	c.537G>A	c.(535-537)gtG>gtA	p.V179V		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	179					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GGGGCAGATTCACTCCCACCA	0.468000														78			20		0	0	0.001882	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010861	59010861	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:59010861G>A	uc002qtc.2	-	6	1775	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	555					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(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;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCTCGGACCGGAAGGTGTCCC	0.657000														66			12		0	0	0.001855	0	0
PGD	5226	broad.mit.edu	37	1	10464303	10464303	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:10464303C>T	uc001arc.3	+	4	506	c.416C>T	c.(415-417)cCa>cTa	p.P139L	PGD_uc010oak.2_Missense_Mutation_p.P117L	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	139					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CGGTATGGCCCATCGCTCATG	0.552000														49			14		0	0	0.004990	0	0
SERPING1	710	broad.mit.edu	37	11	57367838	57367838	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57367838C>T	uc001nkp.1	+	2	729	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	SERPING1_uc010rju.1_Nonsense_Mutation_p.Q128*|SERPING1_uc010rjv.1_Nonsense_Mutation_p.Q185*|SERPING1_uc001nkr.1_Nonsense_Mutation_p.Q180*|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	180					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CCTCCTTACCCAGGTCCTGCT	0.512000														90			30		0	0	0.002445	0	0
OGFR	11054	broad.mit.edu	37	20	61444274	61444274	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:61444274C>A	uc002ydj.3	+	6	1342	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	OGFR_uc002ydk.3_Missense_Mutation_p.P419H|OGFR_uc002ydl.3_Missense_Mutation_p.P384H	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	436					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGTCAGGACCCTGGGGAGGCA	0.662000														26			17		0.00498961	0.00739543	0.004990	1	0
FZD6	8323	broad.mit.edu	37	8	104340522	104340522	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:104340522G>A	uc003ylh.3	+	4	1709	c.1419G>A	c.(1417-1419)ttG>ttA	p.L473L	FZD6_uc011lhn.2_Silent_p.L441L|FZD6_uc003ylj.3_Silent_p.L473L|FZD6_uc011lho.2_Silent_p.L168L|FZD6_uc011lhp.2_Silent_p.L418L	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	473					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GACCAGAATTGGCTTTATTTA	0.343000														101			24		0	0	0.003954	0	0
LRRN1	57633	broad.mit.edu	37	3	3887884	3887884	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:3887884T>C	uc003bpt.4	+	1	2320	c.1559T>C	c.(1558-1560)cTt>cCt	p.L520P	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.L520P	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	520						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATGGGACCCTTCTGGATGGT	0.438000														61			22		0	0	0.002780	0	0
C3orf23	285343	broad.mit.edu	37	3	44434423	44434423	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:44434423C>T	uc003cnd.4	+	5	1076	c.649C>T	c.(649-651)Cgt>Tgt	p.R217C	C3orf23_uc010him.3_Missense_Mutation_p.R217C|C3orf23_uc003cne.4_Missense_Mutation_p.R73C	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	217						mitochondrion		p.R217C(2)|p.R217H(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGAACTAGATCGTTTAAAAGA	0.323000														93			34		0	0	0.002096	0	0
MYOCD	93649	broad.mit.edu	37	17	12647617	12647617	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:12647617C>T	uc002gno.2	+	7	1134	c.835C>T	c.(835-837)Cct>Tct	p.P279S	MYOCD_uc002gnn.2_Missense_Mutation_p.P279S|MYOCD_uc002gnp.1_Missense_Mutation_p.P183S|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	279					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGAGAAGTCCCCTCCACCTAT	0.557000														20			13		0	0	0.002450	0	0
POTEH	23784	broad.mit.edu	37	22	16267070	16267071	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:16267070_16267071CC>TT	uc010gqp.2	-	8	1430_1431	c.1378_1379GG>AA	c.(1378-1380)gga>AAa	p.G460K	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G179K|POTEH_uc002zlj.1_Missense_Mutation_p.G295K	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	460										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATGAGTACTTCCGTGCTTCTTC	0.361000														227			26		0	0	0.004672	0	0
SNX8	29886	broad.mit.edu	37	7	2297013	2297013	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2297013G>A	uc003slw.3	-	8	1164	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	374					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CACAATGCGGGACTCCAGCTG	0.701000														22			8		0	0	0.006214	0	0
IRX2	153572	broad.mit.edu	37	5	2749113	2749113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:2749113C>T	uc003jda.3	-	2	951	c.709G>A	c.(709-711)Gac>Aac	p.D237N	IRX2_uc003jdb.3_Missense_Mutation_p.D237N	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	237						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TTCTCCCCGTCCGACTCGGCC	0.692000														24			13		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9060492	9060492	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9060492G>A	uc002mkp.3	-	2	27158	c.26954C>T	c.(26953-26955)gCt>gTt	p.A8985V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8987	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						CTCAGAGGAAGCAGGTATGGT	0.498000														84			62		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164764781	164764781	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:164764781G>A	uc003fei.3	-	15	1798	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	579	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCTTATTAGGAAAAACTTTT	0.303000										HNSCC(35;0.089)				16			9		0	0	0.004482	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40756656	40756656	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:40756656C>T	uc001cfg.3	+	8	1401	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	397						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			TTTATTTTTTCACCTTACAAT	0.343000														69			22		0	0	0.002780	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799156	57799156	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57799156C>T	uc010rjz.2	+	0	732	c.732C>T	c.(730-732)acC>acT	p.T244T	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CCTTCTCTACCTGTGCAGCTC	0.527000														129			42		0	0	0.002852	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158686	58158686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:58158686C>T	uc001spz.1	-	4	966	c.814G>A	c.(814-816)Gag>Aag	p.E272K	CYP27B1_uc001sqa.1_Missense_Mutation_p.E37K|CYP27B1_uc001sqb.1_Missense_Mutation_p.R152K|CYP27B1_uc001sqc.1_Missense_Mutation_p.R152K	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	272					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCCTCTGCCTCTCGCCGCTCC	0.617000														64			23		0	0	0.003330	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279003	36279003	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:36279003C>T	uc002obs.2	+	20	3197	c.3053C>T	c.(3052-3054)cCc>cTc	p.P1018L	ARHGAP33_uc002obt.2_Missense_Mutation_p.P1015L|ARHGAP33_uc002obv.1_Missense_Mutation_p.P767L	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1179					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCAGGGGTCCCTCACCTGCC	0.682000														33			14		0	0	0.004007	0	0
ADCY5	111	broad.mit.edu	37	3	123003528	123003528	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:123003528C>G	uc003egh.2	-	20	3713	c.3713G>C	c.(3712-3714)cGg>cCg	p.R1238P	ADCY5_uc021xdd.1_Missense_Mutation_p.R888P|ADCY5_uc003egg.2_Missense_Mutation_p.R896P	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1238					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)		GACCACGCCCCGGCACTCCAG	0.607000														104			32		0	0	0.004878	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58190532	58190533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:58190532_58190533CC>TT	uc003djo.1	-	3	493_494	c.396_397GG>AA	c.(394-399)agggag>agAAag	p.E133K	DNASE1L3_uc011bfd.1_Missense_Mutation_p.E103K|DNASE1L3_uc003djp.1_Missense_Mutation_p.E133K|DNASE1L3_uc003djq.1_Missense_Mutation_p.E133K	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	133					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAAAGGGCTCCCTGGAAAACA	0.525000														26			14		0	0	0.004672	0	0
NBPF1	55672	broad.mit.edu	37	1	16892241	16892241	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:16892241C>A	uc009vos.1	-	26	3839	c.2951G>T	c.(2950-2952)aGa>aTa	p.R984I	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	984	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGAATAACATCTATCCAGTGA	0.468000														631			23		2.25844e-05	3.36409e-05	0.007291	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119121239	119121239	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:119121239C>T	uc003ecj.4	+	9	2172	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	547					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCTGAGACTTCTGCAGGTAAG	0.473000														32			17		0	0	0.004990	0	0
LAMC2	3918	broad.mit.edu	37	1	183206618	183206618	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:183206618G>A	uc001gqa.2	+	17	3047	c.2733G>A	c.(2731-2733)caG>caA	p.Q911Q	LAMC2_uc001gpz.4_Silent_p.Q911Q|LAMC2_uc010poa.2_Silent_p.Q611Q	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	911	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCTCTTACAGAATGGAAAAA	0.393000														18			41		0	0	0.002222	0	0
PXDNL	137902	broad.mit.edu	37	8	52320734	52320734	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:52320734G>A	uc003xqu.4	-	16	3551	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1150					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448000														158			44		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26242247	26242247	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:26242247G>A	uc003abz.1	+	18	3799	c.3549G>A	c.(3547-3549)caG>caA	p.Q1183Q	MYO18B_uc003aca.1_Silent_p.Q1064Q|MYO18B_uc010guy.1_Silent_p.Q1065Q|MYO18B_uc010guz.1_Silent_p.Q1064Q|MYO18B_uc011aka.1_Silent_p.Q337Q|MYO18B_uc011akb.1_Silent_p.Q696Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1183	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCAAGCTGCAGATGGTGAGTG	0.612000														28			17		0	0	0.001523	0	0
PNKD	25953	broad.mit.edu	37	2	219204778	219204778	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:219204778C>T	uc002vhn.3	+	3	523	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	PNKD_uc002vhq.3_Missense_Mutation_p.L103F	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.V126V(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCCCTGTCCTCTCGGACAA	0.642000														20			23		0	0	0.002780	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103194685	103194685	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:103194685C>T	uc001phn.1	+	82	12171	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I4002I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4002					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCCAATATCGCTCGCTCAT	0.388000														7			23		0	0	0.004656	0	0
IDI2	91734	broad.mit.edu	37	10	1070537	1070537	+	Missense_Mutation	SNP	C	T	T	rs61738901		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:1070537C>T	uc001ifv.1	-	1	192	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	43					carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		TCAATGTTTTCGTTCAGATGG	0.498000														14			15		0	0	0.003163	0	0
TIAM1	7074	broad.mit.edu	37	21	32639272	32639272	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:32639272C>T	uc002yow.1	-	4	489	c.17G>A	c.(16-18)aGt>aAt	p.S6N	TIAM1_uc011adk.1_Missense_Mutation_p.S6N|TIAM1_uc011adl.1_Missense_Mutation_p.S6N|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	6					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TACATGTTGACTTTCTGCGTT	0.532000														55			15		0	0	0.006122	0	0
THUMPD2	80745	broad.mit.edu	37	2	39993221	39993221	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:39993221G>A	uc002rru.2	-	4	816	c.779C>T	c.(778-780)tCt>tTt	p.S260F	THUMPD2_uc002rrv.2_Non-coding_Transcript|THUMPD2_uc010ynt.1_Missense_Mutation_p.S151F|THUMPD2_uc010ynu.1_3'UTR	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	Homo sapiens THUMP domain containing 2 (THUMPD2), transcript variant 1, mRNA.	260	THUMP.						methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CCCCACCACAGAGTAAATGTC	0.328000														86			27		0	0	0.002096	0	0
MYO7A	4647	broad.mit.edu	37	11	76885807	76885807	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:76885807C>T	uc001oyb.2	+	16	2213	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	MYO7A_uc010rsl.2_Silent_p.F647F|MYO7A_uc010rsm.1_Silent_p.F636F|MYO7A_uc001oyc.2_Silent_p.F647F|MYO7A_uc001oyd.3_5'UTR	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	647	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGCAGCTGTTCGACCGGCACC	0.617000														3			6		0	0	0.003080	0	0
OR4N5	390437	broad.mit.edu	37	14	20612129	20612129	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:20612129C>T	uc010tla.2	+	0	235	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79P(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CATTGTGGTTCCCAGGATGTT	0.478000														83			69		0	0	0.003610	0	0
TOP3B	8940	broad.mit.edu	37	22	22312879	22312879	+	Nonsense_Mutation	SNP	G	A	A	rs142196057		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:22312879G>A	uc002zvs.3	-	16	2527	c.2092C>T	c.(2092-2094)Cga>Tga	p.R698*	TOP3B_uc010gtm.2_Nonsense_Mutation_p.R243*|TOP3B_uc002zvt.4_Nonsense_Mutation_p.R698*|TOP3B_uc010gtl.3_Nonsense_Mutation_p.R698*	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	698					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTCATGTCTCGGAAGGGTGGG	0.602000														144			25		0	0	0.004656	0	0
SETD8	387893	broad.mit.edu	37	12	123892187	123892187	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:123892187C>T	uc001uew.3	+	7	1038	c.996C>T	c.(994-996)ctC>ctT	p.L332L		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	373	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		GGGAGGAGCTCCTGTATGACT	0.612000														25			8		0	0	0.004482	0	0
GXYLT2	727936	broad.mit.edu	37	3	73006469	73006469	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:73006469G>A	uc003dpg.3	+	4	942	c.942G>A	c.(940-942)caG>caA	p.Q314Q		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	314					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						GGGGAGACCAGGatttattaa	0.443000														22			8		0	0	0.004482	0	0
ARID1A	8289	broad.mit.edu	37	1	27087520	27087520	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:27087520C>T	uc001bmv.1	+	4	2467	c.2094C>T	c.(2092-2094)tcC>tcT	p.S698S	ARID1A_uc001bmt.1_Silent_p.S698S|ARID1A_uc001bmu.1_Silent_p.S698S|ARID1A_uc001bmw.1_Silent_p.S315S	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	698					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTCCCCGTCCCCTGTTGGCT	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									41			21		0	0	0.002299	0	0
PRIC285	85441	broad.mit.edu	37	20	62195558	62195558	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:62195558G>A	uc002yfm.2	-	8	5509	c.4617C>T	c.(4615-4617)ttC>ttT	p.F1539F	PRIC285_uc002yfl.1_Silent_p.F970F	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1539					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGCCCACCAGGAACTCAGCCA	0.637000														14			6		0	0	0.001984	0	0
CCDC149	91050	broad.mit.edu	37	4	24833217	24833217	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:24833217G>A	uc003grc.3	-	8	975	c.876C>T	c.(874-876)tcC>tcT	p.S292S	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Silent_p.S292S|CCDC149_uc003gre.3_Silent_p.S237S|CCDC149_uc003gra.2_Silent_p.S165S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	292										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				GGTCAGAAATGGACTGCGGAG	0.463000														67			15		0	0	0.004007	0	0
PEG3	5178	broad.mit.edu	37	19	57325597	57325597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57325597C>T	uc002qnu.2	-	6	4564	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E1376K|PEG3_uc002qnv.2_Missense_Mutation_p.E1405K|PEG3_uc002qnw.2_Missense_Mutation_p.E1281K|PEG3_uc002qnx.2_Missense_Mutation_p.E1279K|PEG3_uc010etr.2_Missense_Mutation_p.E1405K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1405	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCCTCCACTTCTGGCTCGGCA	0.572000														60			25		0	0	0.005443	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868259	31868259	+	Missense_Mutation	SNP	C	T	T	rs143624178		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31868259C>T	uc003nyd.1	-	1	1000	c.824G>A	c.(823-825)gGg>gAg	p.G275E	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.G275E|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	275	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAGGCCCTCCCCTTCTGCATC	0.706000														211			39		0	0	0.008740	0	0
CCR1	1230	broad.mit.edu	37	3	46245783	46245783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:46245783C>T	uc003cph.1	-	1	93	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.E8K	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	8					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCATAGTCCTCTGTGGTGTTT	0.498000														20			8		0	0	0.004482	0	0
DTX4	23220	broad.mit.edu	37	11	58962828	58962828	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:58962828C>T	uc001nns.2	+	6	1779	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	DTX4_uc001nnr.2_Missense_Mutation_p.P402S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	508					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTACAGCATCCCCCCCGGCAT	0.512000														31			8		0	0	0.003080	0	0
IRGC	56269	broad.mit.edu	37	19	44223121	44223121	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:44223121C>T	uc002oxh.3	+	1	558	c.411C>T	c.(409-411)ttC>ttT	p.F137F	IRGC_uc021uvh.1_Silent_p.F137F	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	137						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ATGACTTCTTCCTGCTGGTCT	0.642000														6			10		0	0	0.006214	0	0
SDK1	221935	broad.mit.edu	37	7	4185409	4185409	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4185409G>A	uc003smx.3	+	28	4423	c.4284G>A	c.(4282-4284)gtG>gtA	p.V1428V	SDK1_uc010kso.3_Silent_p.V704V|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1428	Fibronectin type-III 8.				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)		TCACCACCGTGGAGGTCGGCG	0.662000														193			25		0	0	0.005443	0	0
SCYL2	55681	broad.mit.edu	37	12	100720500	100720500	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:100720500C>T	uc001thn.3	+	11	1660	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	SCYL2_uc009ztw.1_Missense_Mutation_p.S364F|SCYL2_uc001thm.1_Missense_Mutation_p.S537F	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	537					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAAATTCCATCCAAGGAACCT	0.333000														37			18		0	0	0.007413	0	0
HTT	3064	broad.mit.edu	37	4	3148619	3148619	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:3148619C>T	uc021xkv.1	+	24	3384	c.3239C>T	c.(3238-3240)cCa>cTa	p.P1080L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1080					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTTGGTTCCCATTGGATCTC	0.507000														770			135		0	0	0.003610	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758735	62758735	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:62758735G>A	uc011kdj.2	-	1	143	c.75C>T	c.(73-75)ttC>ttT	p.F25F						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		CCTCCAGAGAGAATTCTATAG	0.433000														76			7		0	0	0.001984	0	0
DDX60	55601	broad.mit.edu	37	4	169196545	169196545	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:169196545C>T	uc003irp.3	-	15	2547	c.2255G>A	c.(2254-2256)aGa>aAa	p.R752K		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	752							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGGGTCTTTTCTCTCATCTCG	0.378000														30			25		0	0	0.003330	0	0
TTLL2	83887	broad.mit.edu	37	6	167753716	167753716	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:167753716A>T	uc003qvs.1	+	2	416	c.328A>T	c.(328-330)Aag>Tag	p.K110*		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	110	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGTGGAATAAGTTTGATAA	0.552000														10			14		0	0	0.001855	0	0
LRRC1	55227	broad.mit.edu	37	6	53707025	53707025	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:53707025G>A	uc003pcd.1	+	2	798	c.277_splice	c.e2+1	p.E93_splice		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	93						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GTCTCGAAATGGTAAGAAAGA	0.418000														152			34		0	0	0.003755	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927115	130927115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:130927115C>T	uc001uil.2	-	7	947	c.731G>A	c.(730-732)gGg>gAg	p.G244E	RIMBP2_uc001uim.3_Missense_Mutation_p.G152E	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	244						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGCTCGTTCCCCAGCGTGCT	0.597000														41			11		0	0	0.000978	0	0
NLRP8	126205	broad.mit.edu	37	19	56467422	56467422	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:56467422C>T	uc002qmh.3	+	2	2069	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	NLRP8_uc010etg.3_Silent_p.F666F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	666						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCTGAACTTCATGAACGTGT	0.517000														64			21		0	0	0.001523	0	0
LAS1L	81887	broad.mit.edu	37	X	64743512	64743512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:64743512G>A	uc004dwa.2	-	10	1467	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	LAS1L_uc004dwc.2_Missense_Mutation_p.S442F|LAS1L_uc004dwd.2_Missense_Mutation_p.S400F	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	459						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CCAGTCAAGGGAGGCGGAGCA	0.577000														1			4		0	0	0.000248	0	0
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7460146	7460146	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:7460146G>A	uc002ghi.1	+	5	521	c.425G>A	c.(424-426)aGc>aAc	p.S142N	TNFSF12-TNFSF13_uc002ghh.3_Non-coding_Transcript|TNFSF12-TNFSF13_uc002ghg.3_Missense_Mutation_p.S142N|TNFSF12-TNFSF13_uc002ghj.2_5'Flank|TNFSF12-TNFSF13_uc002ghk.2_5'Flank|TNFSF12-TNFSF13_uc021tpb.1_5'Flank|TNFSF12-TNFSF13_uc002ghl.2_5'Flank|TNFSF12-TNFSF13_uc010vua.1_5'Flank|TNFSF12-TNFSF13_uc010cmk.2_5'Flank	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	142					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				AACAGCTCCAGCCCTCTGCGC	0.567000														16			20		0	0	0.007413	0	0
LRTM1	57408	broad.mit.edu	37	3	54958730	54958730	+	Missense_Mutation	SNP	G	A	A	rs142832767		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:54958730G>A	uc003dhl.3	-	1	654	c.520C>T	c.(520-522)Ctt>Ttt	p.L174F	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.	174						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)		AGAAGTAAAAGCCTCACACTG	0.463000														63			34		0	0	0.003755	0	0
GPR161	23432	broad.mit.edu	37	1	168066078	168066078	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:168066078A>T	uc010pln.2	-	3	1361	c.827T>A	c.(826-828)tTt>tAt	p.F276Y	GPR161_uc001gfb.3_Missense_Mutation_p.F124Y|GPR161_uc001gfc.3_Missense_Mutation_p.F256Y|GPR161_uc010pll.2_Missense_Mutation_p.F166Y|GPR161_uc010plm.2_Missense_Mutation_p.F142Y|GPR161_uc009wvo.3_Missense_Mutation_p.F273Y|GPR161_uc001gfd.3_Missense_Mutation_p.F256Y|GPR161_uc001gfe.1_Missense_Mutation_p.F256Y	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	256					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L276I(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CACACCCTGAAAGGCATTCCT	0.597000														153			48		0	0	0.003610	0	0
C4B	721	broad.mit.edu	37	6	31997536	31997536	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31997536C>T	uc011dpd.2	+	28	3921	c.3870C>T	c.(3868-3870)acC>acT	p.T1290T	C4B_uc011dpe.2_Silent_p.T1290T	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1290					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CCTGGCTCACCCGTCAGGGCA	0.652000														194			13		0	0	0.002450	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492893	21492893	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:21492893G>A	uc002wsi.3	-	1	847	c.490C>T	c.(490-492)Ctc>Ttc	p.L164F		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	164					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGGCGGATGAGGCTGGCCAGG	0.657000														41			16		0	0	0.004990	0	0
OR2A5	393046	broad.mit.edu	37	7	143748115	143748115	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:143748115G>A	uc011ktw.2	+	0	621	c.621G>A	c.(619-621)ctG>ctA	p.L207L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGTTCATCCTGGTGGGGCCGC	0.582000														47			40		0	0	0.007835	0	0
PDS5A	23244	broad.mit.edu	37	4	39929628	39929628	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:39929628G>A	uc003guv.4	-	2	835	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	PDS5A_uc003guw.4_Missense_Mutation_p.R99C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	99					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GCATAGATACGAAAGATATCA	0.398000														99			15		0	0	0.003163	0	0
SPATA20	64847	broad.mit.edu	37	17	48626486	48626486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:48626486C>T	uc002ird.3	+	5	740	c.599C>T	c.(598-600)cCt>cTt	p.P200L	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.P140L|SPATA20_uc002irf.3_Missense_Mutation_p.P184L|SPATA20_uc010wmv.1_Missense_Mutation_p.P210L|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	184					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			ACCTATTTCCCTCCTGAGGAT	0.652000														40			14		0	0	0.002450	0	0
SSH2	85464	broad.mit.edu	37	17	27958542	27958542	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:27958542C>T	uc002heo.1	-	14	3589	c.3589G>A	c.(3589-3591)Ggg>Agg	p.G1197R	SSH2_uc010wbh.1_Missense_Mutation_p.G1224R	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	1197					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTAACTCCCCAGTGTTGTCA	0.502000														116			34		0	0	0.006230	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54696093	54696093	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:54696093C>T	uc003jpy.4	+	20	2591	c.2325C>T	c.(2323-2325)ccC>ccT	p.P775P	SKIV2L2_uc011cqi.2_Silent_p.P674P	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	775					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ACGGCATCCCCTTATTAGACC	0.353000														47			11		0	0	0.001368	0	0
CARD11	84433	broad.mit.edu	37	7	2963889	2963889	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:2963889A>G	uc003smv.3	-	14	2252	c.1918T>C	c.(1918-1920)Ttc>Ctc	p.F640L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	640					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AACTTCCTGAACATGAGGTTG	0.592000			Mis		DLBCL									98			8		0	0	0.003080	0	0
ZNF468	90333	broad.mit.edu	37	19	53344355	53344355	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:53344355G>A	uc002qaf.3	-	3	1343	c.1192C>T	c.(1192-1194)Ctt>Ttt	p.L398F	ZNF468_uc002qae.3_Missense_Mutation_p.L345F|ZNF468_uc021uzb.1_Missense_Mutation_p.L345F	NM_001008801	NP_954583	Q5VIY5	ZN468_HUMAN	Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCTTTCAAGGTGTGATTTG	0.403000														114			22		0	0	0.002780	0	0
EPHA2	1969	broad.mit.edu	37	1	16458768	16458768	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:16458768C>T	uc001aya.2	-	13	2271	c.2116_splice	c.e13-1	p.E706_splice		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	706	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCATCCTTCTCCTGCCGGAGC	0.657000														23			18		0	0	0.007413	0	0
ABCC8	6833	broad.mit.edu	37	11	17436131	17436131	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:17436131G>A	uc001mnc.3	-	18	2444	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	773	ABC transporter 1.				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)	TGGTTTCTGCGAAGCATAGGC	0.547000														141			108		0	0	0.003610	0	0
CPT1C	126129	broad.mit.edu	37	19	50203940	50203940	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:50203940G>A	uc010eng.3	+	5	598	c.282_splice	c.e5-1	p.W94_splice	CPT1C_uc002ppl.4_Splice_Site_p.W94_splice|CPT1C_uc002ppi.3_Splice_Site_p.W11_splice|CPT1C_uc002ppk.3_Splice_Site_p.W94_splice|CPT1C_uc010enh.3_Splice_Site_p.W94_splice|CPT1C_uc002ppj.3_Splice_Site_p.W94_splice|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	94					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCTCCCCGCAGGGGTGGACAA	0.662000														41			37		0	0	0.006999	0	0
ATP10D	57205	broad.mit.edu	37	4	47517562	47517562	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:47517562G>A	uc003gxk.1	+	2	524	c.360G>A	c.(358-360)aaG>aaA	p.K120K	ATP10D_uc003gxj.3_Silent_p.K120K	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	120					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCTTCCAAAAGGAAATCACCA	0.413000														147			39		0	0	0.002222	0	0
GDF5OS	554250	broad.mit.edu	37	20	34021839	34021839	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:34021839G>A	uc002xcj.3	+	1	325	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	GDF5_uc010gfc.1_Silent_p.P458P|GDF5_uc002xck.1_Silent_p.P458P					Homo sapiens growth differentiation factor 5 opposite strand, mRNA (cDNA clone MGC:99835 IMAGE:6650156), complete cds.											cervix(1)|endometrium(4)|lung(4)	9						GTGTGGACTCGGGGTCCATGG	0.582000														38			10		0	0	0.001368	0	0
ILDR1	286676	broad.mit.edu	37	3	121720677	121720677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:121720677C>T	uc003ees.3	-	3	617	c.414G>A	c.(412-414)tgG>tgA	p.W138*	ILDR1_uc003eeq.3_Nonsense_Mutation_p.W150*|ILDR1_uc003eer.3_Nonsense_Mutation_p.W138*|ILDR1_uc010hrg.3_Intron	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	138	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTCCATGGTCCCACCACATCA	0.498000														39			26		0	0	0.003330	0	0
ZNF318	24149	broad.mit.edu	37	6	43322651	43322651	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43322651G>A	uc003oux.3	-	3	2499	c.2421C>T	c.(2419-2421)acC>acT	p.T807T	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	807					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACGGTTGAGAGGTGGGATACA	0.527000														93			22		0	0	0.001882	0	0
TG	7038	broad.mit.edu	37	8	133900623	133900623	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:133900623C>T	uc003ytw.3	+	9	2612	c.2571C>T	c.(2569-2571)ccC>ccT	p.P857P		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	857	Thyroglobulin type-1 7.				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)		GGCCCCAGCCCAGGGAGAATA	0.552000														83			11		0	0	0.001368	0	0
OR5M3	219482	broad.mit.edu	37	11	56237335	56237335	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:56237335G>A	uc010rjk.2	-	0	680	c.639C>T	c.(637-639)atC>atT	p.I213I	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTAAGAGATGATAATTACAG	0.443000														156			15		0	0	0.004007	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160692099	160692099	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:160692099C>T	uc002ubb.4	-	25	3639	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E1189K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E1189K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1189	C-type lectin 7.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CCATTAGTTTCAGCCCAGCGA	0.413000														38			20		0	0	0.001523	0	0
CACNA1S	779	broad.mit.edu	37	1	201010696	201010696	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:201010696G>A	uc001gvv.3	-	40	5297	c.5070C>T	c.(5068-5070)ttC>ttT	p.F1690F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1690					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCTCTTCTGGGAACTCCCTTT	0.562000														11			23		0	0	0.005443	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858354	54858354	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:54858354C>T	uc002rxu.3	+	15	3419	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	SPTBN1_uc002rxx.3_Missense_Mutation_p.S1044F	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1057					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGAGAGGCCTCCCTGGGAGAG	0.632000														48			20		0	0	0.001523	0	0
MACROD2	140733	broad.mit.edu	37	20	15967391	15967391	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:15967391G>A	uc002wou.3	+	13	1269	c.1005G>A	c.(1003-1005)acG>acA	p.T335T	MACROD2_uc002wot.3_Silent_p.T335T|MACROD2_uc002woz.3_Silent_p.T100T|MACROD2_uc002wpb.3_Silent_p.T100T|MACROD2_uc002wpd.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	335	Glu-rich.		T -> M (in dbSNP:rs41275442).							breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ATGATTCAACGAAGAATGAAA	0.338000														53			10		0	0	0.008291	0	0
INTS3	65123	broad.mit.edu	37	1	153721217	153721217	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:153721217C>T	uc009wom.3	+	6	791	c.570C>T	c.(568-570)atC>atT	p.I190I	INTS3_uc001fct.3_Silent_p.I190I|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_5'UTR|INTS3_uc010peb.2_5'Flank|INTS3_uc001fcw.3_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	191					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTCTGGATATCCTGACAGAGC	0.468000														240			82		0	0	0.003610	0	0
GPR115	221393	broad.mit.edu	37	6	47680130	47680130	+	Missense_Mutation	SNP	C	T	T	rs149916768	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:47680130C>T	uc003oyz.1	+	5	509	c.509C>T	c.(508-510)cCa>cTa	p.P170L	GPR115_uc003oza.1_Missense_Mutation_p.P113L|GPR115_uc003ozb.1_Missense_Mutation_p.P113L|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTAGCAGCACCATCTATACCT	0.413000														207			26		0	0	0.006320	0	0
NPY5R	4889	broad.mit.edu	37	4	164272606	164272606	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:164272606A>T	uc003iqn.3	+	3	1363	c.1181A>T	c.(1180-1182)aAt>aTt	p.N394I	NPY5R_uc021xtw.1_Missense_Mutation_p.N394I	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	394					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ACTGATTTTAATGACAATCTT	0.353000														32			23		0	0	0.001882	0	0
PPP3CC	5533	broad.mit.edu	37	8	22370923	22370923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:22370923C>T	uc011kzi.2	+	5	1188	c.748C>T	c.(748-750)Cga>Tga	p.R250*	PPP3CC_uc003xbr.2_Nonsense_Mutation_p.R250*|PPP3CC_uc003xbs.3_Nonsense_Mutation_p.R250*|PPP3CC_uc003xbt.3_Nonsense_Mutation_p.R250*	NM_001243974	NP_001230903	P48454	PP2BC_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, gamma isozyme (PPP3CC), transcript variant 1, mRNA.	250					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		CAACACTGTCCGAGGGTGCTC	0.428000														78			45		0	0	0.003610	0	0
PIGO	84720	broad.mit.edu	37	9	35093436	35093436	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:35093436G>A	uc003zwd.3	-	4	1317	c.921C>T	c.(919-921)ttC>ttT	p.F307F	PIGO_uc003zwe.3_Silent_p.F307F|PIGO_uc003zwf.3_Silent_p.F307F|PIGO_uc003zwc.1_Silent_p.F307F|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	307					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGTGCTGGGGAAGACTGCTG	0.537000														21			12		0	0	0.002450	0	0
ALG14	199857	broad.mit.edu	37	1	95538372	95538372	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:95538372G>A	uc001dra.2	-	0	136	c.83C>T	c.(82-84)tCc>tTc	p.S28F		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	28					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		AACGTCCATGGAACGAAGCAC	0.562000														28			27		0	0	0.007291	0	0
XIRP2	129446	broad.mit.edu	37	2	168105581	168105581	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:168105581A>T	uc002udx.3	+	8	7768	c.7679A>T	c.(7678-7680)aAa>aTa	p.K2560I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2385I|XIRP2_uc010fpq.3_Missense_Mutation_p.K2338I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2385					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						GAAATTGAAAAACAGAAACAG	0.303000														43			45		0	0	0.002852	0	0
TUBE1	51175	broad.mit.edu	37	6	112397626	112397626	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:112397626G>A	uc003pvq.3	-	6	649	c.535C>T	c.(535-537)Cct>Tct	p.P179S		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	179					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TCACCAGAAGGATAAATGGAA	0.398000														20			26		0	0	0.003954	0	0
CADM3	57863	broad.mit.edu	37	1	159166195	159166195	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159166195C>T	uc001ftl.2	+	5	912	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	CADM3_uc009wsy.1_Missense_Mutation_p.R199C|CADM3_uc001ftk.2_Missense_Mutation_p.R279C|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	245	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R279C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCCCCATCCTCGTGAGGGCCA	0.517000											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			29		0	0	0.003271	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947001	57947001	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:57947001C>T	uc021qjm.1	+	0	85	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	OR9Q1_uc001nmj.3_Missense_Mutation_p.L29F	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CCCTCTCTTCCTCTTGTTTTT	0.453000														154			45		0	0	0.008740	0	0
KIAA0240	23506	broad.mit.edu	37	6	42832752	42832752	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:42832752C>T	uc003osn.1	+	12	2959	c.2808C>T	c.(2806-2808)ggC>ggT	p.G936G	KIAA0240_uc011duw.1_Silent_p.G936G|KIAA0240_uc003osp.1_Silent_p.G936G	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	936										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			GCTCTCCCGGCCCTGAGGGGC	0.537000														70			14		0	0	0.003163	0	0
ABP1	26	broad.mit.edu	37	7	150554425	150554425	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:150554425G>A	uc003why.1	+	2	5085	c.867G>A	c.(865-867)ggG>ggA	p.G289G	ABP1_uc003whz.1_Silent_p.G289G|ABP1_uc003wia.1_Silent_p.G289G	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	289					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCCGCGGGGACTTCCCCA	0.701000														4			4		0	0	0.000248	0	0
KIAA0247	9766	broad.mit.edu	37	14	70170167	70170167	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:70170167C>T	uc001xlk.3	+	2	493	c.177C>T	c.(175-177)ccC>ccT	p.P59P	KIAA0247_uc010aqz.3_Silent_p.P34P	NM_014734	NP_055549	Q92537	K0247_HUMAN	Homo sapiens KIAA0247 (KIAA0247), mRNA.	59	Sushi.					integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ACCCCCGGCCCTGCAGAGACC	0.567000														29			22		0	0	0.001882	0	0
FBXL18	80028	broad.mit.edu	37	7	5541201	5541201	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:5541201G>A	uc003soo.2	-	2	793	c.699C>T	c.(697-699)ttC>ttT	p.F233F	FBXL18_uc003son.4_Silent_p.F233F	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	233									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGCGCGCATAGAAGACCCGCA	0.642000														138			8		0	0	0.003080	0	0
PMS2	5395	broad.mit.edu	37	7	6027010	6027010	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:6027010G>A	uc003spl.3	-	10	1473	c.1386C>T	c.(1384-1386)atC>atT	p.I462I	PMS2_uc003spj.3_Silent_p.I356I|PMS2_uc003spk.3_Silent_p.I327I|PMS2_uc011jwl.2_Silent_p.I327I|PMS2_uc010ktg.3_Silent_p.I151I|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Silent_p.I462I	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	462					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTTGTCAGAGATGGCACCTG	0.557000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					341			21		0	0	0.002780	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625132	56625132	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:56625132C>T	uc010sqj.2	+	3	331	c.74C>T	c.(73-75)tCa>tTa	p.S25L	SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Missense_Mutation_p.S25L	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	25					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTAGGGGGCTCAGTCCCCAAC	0.622000														94			27		0	0	0.004656	0	0
PLK3	1263	broad.mit.edu	37	1	45271237	45271237	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:45271237C>T	uc001cmn.3	+	14	1928	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C	BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	610	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCCCGAAATCGTAGTGCTTG	0.602000														80			45		0	0	0.008740	0	0
COL11A1	1301	broad.mit.edu	37	1	103347311	103347311	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:103347311G>A	uc001dum.3	-	64	5336	c.5018C>T	c.(5017-5019)tCa>tTa	p.S1673L	COL11A1_uc001duk.3_Missense_Mutation_p.S857L|COL11A1_uc001dul.3_Missense_Mutation_p.S1661L|COL11A1_uc001dun.3_Missense_Mutation_p.S1622L|COL11A1_uc009weh.3_Missense_Mutation_p.S1545L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1661	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGCCATGATGAAATTCTTAC	0.318000														14			4		0	0	0.001168	0	0
GRM1	2911	broad.mit.edu	37	6	146720176	146720176	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:146720176C>T	uc010khw.1	+	7	2471	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	GRM1_uc010khv.1_Silent_p.S667S|GRM1_uc003qll.2_Silent_p.S667S|GRM1_uc011edz.1_Silent_p.S667S|GRM1_uc011eea.1_Silent_p.S667S	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	667					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TTGGCCTCTCCTCTGCGATGT	0.527000														127			88		0	0	0.003610	0	0
DOCK9	23348	broad.mit.edu	37	13	99575589	99575589	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:99575589G>A	uc001vnt.2	-	4	511	c.456C>T	c.(454-456)gtC>gtT	p.V152V	DOCK9_uc001vnw.2_Silent_p.V151V|DOCK9_uc021rlw.1_Silent_p.V151V|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.V152V|DOCK9_uc010tis.1_Silent_p.V151V|DOCK9_uc010tit.1_Silent_p.V152V|DOCK9_uc010afu.1_5'UTR	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	152					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAACTTCATAGACATGAACTG	0.373000														71			31		0	0	0.005524	0	0
RNF181	51255	broad.mit.edu	37	2	85824049	85824049	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:85824049A>C	uc002spv.1	+	2	372	c.322A>C	c.(322-324)Agc>Cgc	p.S108R		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	108							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						GCCCTGGCTAAGCAAGGTACT	0.527000														66			32		0	0	0.008361	0	0
FAT4	79633	broad.mit.edu	37	4	126371308	126371308	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:126371308C>T	uc003ifj.4	+	8	9137	c.9137C>T	c.(9136-9138)tCc>tTc	p.S3046F	FAT4_uc011cgp.2_Missense_Mutation_p.S1344F|FAT4_uc003ifi.1_Missense_Mutation_p.S524F	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3046	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTAGCATCCTCCCTGATTTCT	0.383000														17			11		0	0	0.000978	0	0
FGF12	2257	broad.mit.edu	37	3	192125915	192125915	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:192125915G>A	uc003fsx.3	-	0	924	c.98C>T	c.(97-99)cCc>cTc	p.P33L	FGF12_uc003fsy.3_Intron	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	33					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GTCTTTGCTGGGGCTGGAGCG	0.677000														56			34		0	0	0.003271	0	0
DMBT1	1755	broad.mit.edu	37	10	124352006	124352006	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:124352006G>A	uc001lgk.1	+	19	2501	c.2395G>A	c.(2395-2397)Gat>Aat	p.D799N	DMBT1_uc001lgl.1_Missense_Mutation_p.D789N|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.D799N|DMBT1_uc021qag.1_Missense_Mutation_p.D789N|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.D799N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.D412N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	799	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGTTCTGGATGATGTGCGCTG	0.607000														55			47		0	0	0.003214	0	0
SUN5	140732	broad.mit.edu	37	20	31583448	31583448	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:31583448C>T	uc002wyi.3	-	7	604	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	171					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						GCTTCCATCTCCTGGAGCTTG	0.502000														234			73		0	0	0.003610	0	0
COL6A2	1292	broad.mit.edu	37	21	47551942	47551942	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:47551942G>A	uc002zia.1	+	27	2618	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	846	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGGCTGGGTGAGCAGAACTT	0.706000														5			6		0	0	0.001168	0	0
MBD5	55777	broad.mit.edu	37	2	149226560	149226560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:149226560C>T	uc002twm.4	+	8	2045	c.1048C>T	c.(1048-1050)Cca>Tca	p.P350S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	350	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			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)		TCAGAAAAAGCCATTAACATC	0.438000														22			12		0	0	0.000978	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031489	52031489	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:52031489G>A	uc002pwy.3	-	5	1239	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	SIGLEC6_uc002pwz.3_Missense_Mutation_p.A328V|SIGLEC6_uc010ydb.2_Missense_Mutation_p.A292V|SIGLEC6_uc010ydc.2_Missense_Mutation_p.A355V|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	344					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACACCACCAGCCCTGCCTTC	0.507000														25			10		0	0	0.001368	0	0
SCAND3	114821	broad.mit.edu	37	6	28541011	28541011	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:28541011C>T	uc003nlo.3	-	3	3273	c.2655G>A	c.(2653-2655)atG>atA	p.M885I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	885					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gttgatcttccatatcattag	0.373000														175			38		0	0	0.008740	0	0
RERE	473	broad.mit.edu	37	1	8568705	8568705	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:8568705C>T	uc001ape.3	-	8	1670	c.860G>A	c.(859-861)cGt>cAt	p.R287H	RERE_uc001apf.3_Missense_Mutation_p.R287H|RERE_uc010nzx.1_Missense_Mutation_p.R19H|RERE_uc001aph.1_Missense_Mutation_p.R287H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	287	ELM2.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGACCGACACGAATCTCCCC	0.403000														57			14		0	0	0.003163	0	0
IFT57	55081	broad.mit.edu	37	3	107932859	107932859	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:107932859G>A	uc021xcc.1	-	3	650	c.597C>T	c.(595-597)taC>taT	p.Y199Y	IFT57_uc003dwx.4_Silent_p.Y168Y	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	168					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTTCTACTGGGTATATTGGCC	0.308000														27			7		0	0	0.006214	0	0
KRT7	3855	broad.mit.edu	37	12	52641960	52641960	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:52641960G>A	uc001saa.1	+	8	1333	c.1206_splice	c.e8-1	p.R402_splice	KRT86_uc010snq.2_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	402	Tail.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TCTGCCCCCAGGTTGGCTGGA	0.582000														45			12		0	0	0.001855	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949119	59949119	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:59949119C>T	uc010rla.2	-	2	639	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	MS4A6A_uc001noq.3_Missense_Mutation_p.E28K|MS4A6A_uc009ymv.3_Missense_Mutation_p.E28K|MS4A6A_uc001not.3_Missense_Mutation_p.E28K|MS4A6A_uc010rlb.2_Missense_Mutation_p.E28K	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	28						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGTGGGTTCGGGTTTCTCT	0.463000														59			40		0	0	0.002522	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101868	69101868	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:69101868C>T	uc003hdw.4	-	3	376	c.240_splice	c.e3+1	p.K80_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTCTGATTTACCTTAGTCTCA	0.284000														12			7		0	0	0.001984	0	0
ALG3	10195	broad.mit.edu	37	3	183961677	183961677	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:183961677G>A	uc003fne.2	-	5	865	c.834C>T	c.(832-834)ttC>ttT	p.F278F	ALG3_uc011brc.1_Silent_p.F243F|ALG3_uc011brd.1_Silent_p.F222F|ALG3_uc011bre.1_Silent_p.F230F	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	278					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTCTGGGAGGAAGCGCCAGT	0.632000														25			15		0	0	0.003163	0	0
PGC	5225	broad.mit.edu	37	6	41710162	41710162	+	Silent	SNP	G	A	A	rs146180846	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:41710162G>A	uc003ora.2	-	4	580	c.513C>T	c.(511-513)ttC>ttT	p.F171F	PGC_uc021yzm.1_Silent_p.F171F	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	171					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCGCATAGACGAAGTTGGTAC	0.592000														83			20		0	0	0.001523	0	0
ZNF543	125919	broad.mit.edu	37	19	57839423	57839423	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:57839423C>T	uc002qoi.2	+	3	950	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGAAAAATTCCTATAAATGT	0.403000														67			23		0	0	0.002299	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188373	32188373	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32188373G>A	uc003obb.3	-	5	1107	c.968C>T	c.(967-969)cCc>cTc	p.P323L	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P323L	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	323	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGTGAGGGGGACCCTGGGT	0.627000														268			57		0	0	0.003610	0	0
SZT2	23334	broad.mit.edu	37	1	43895512	43895512	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:43895512C>T	uc001cjk.2	+	27	4218	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1435						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ATAGCGTCATCCAGGTGGGAA	0.597000														56			32		0	0	0.002096	0	0
ZNF197	10168	broad.mit.edu	37	3	44683587	44683587	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:44683587A>C	uc003cnm.3	+	5	1171	c.965A>C	c.(964-966)aAg>aCg	p.K322T	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	322					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GATACAGTGAAGAAAGTTTCC	0.443000														28			15		0	0	0.003163	0	0
COL28A1	340267	broad.mit.edu	37	7	7480434	7480434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:7480434G>A	uc003src.1	-	20	1826	c.1709C>T	c.(1708-1710)cCc>cTc	p.P570L	COL28A1_uc011jxe.1_Missense_Mutation_p.P253L|COL28A1_uc003srd.3_Missense_Mutation_p.P125L	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	570	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.P570P(1)		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)		TGGTCCTTCGGGCCCTGGAAG	0.373000														136			27		0	0	0.001786	0	0
SPECC1L	23384	broad.mit.edu	37	22	24720332	24720332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:24720332G>A	uc002zzw.3	+	5	2386	c.2083G>A	c.(2083-2085)Gat>Aat	p.D695N	SPECC1L_uc002zzv.4_Missense_Mutation_p.D695N|SPECC1L_uc011ajq.2_Missense_Mutation_p.D695N|SPECC1L_uc021wne.1_Non-coding_Transcript	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1-like (SPECC1L), transcript variant 1, mRNA.	695					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TGAACTTGAAGATGAAGTAGA	0.328000														27			33		0	0	0.003755	0	0
IL6R	3570	broad.mit.edu	37	1	154403046	154403047	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:154403046_154403047CC>TT	uc001fez.2	+	2	859_860	c.422_423CC>TT	c.(421-423)tcc>tTT	p.S141F	IL6R_uc021paf.1_Missense_Mutation_p.S141F|IL6R_uc001ffa.2_Missense_Mutation_p.S141F	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	141					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCACCCCATCCCTGACGACAA	0.594000														17			29		0	0	0.004672	0	0
SLC17A8	246213	broad.mit.edu	37	12	100751232	100751232	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:100751232G>A	uc010svi.2	+	0	376	c.63G>A	c.(61-63)gtG>gtA	p.V21V	SLC17A8_uc009ztx.3_Silent_p.V21V	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	21					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AGGAAGGAGTGAAGAACGCCG	0.408000														66			19		0	0	0.001523	0	0
MED8	112950	broad.mit.edu	37	1	43850172	43850172	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:43850172C>T	uc001cje.1	-	7	903	c.855G>A	c.(853-855)aaG>aaA	p.K285K		NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	0					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGAAGCTTCTTCACCTTGC	0.517000														21			6		0	0	0.003080	0	0
ACTN1	87	broad.mit.edu	37	14	69341640	69341640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:69341640G>A	uc001xkl.3	-	20	2925	c.2615C>T	c.(2614-2616)tCc>tTc	p.S872F	ACTN1_uc001xkk.3_Missense_Mutation_p.S468F|ACTN1_uc010ttb.2_Missense_Mutation_p.S802F|ACTN1_uc001xkm.3_Missense_Mutation_p.S894F|ACTN1_uc001xkn.3_Missense_Mutation_p.S867F	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	872					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	p.S872S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		ACCTGGCACGGAGTCGGGGCC	0.662000														19			18		0	0	0.008871	0	0
SFSWAP	6433	broad.mit.edu	37	12	132238958	132238958	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:132238958C>T	uc001uja.1	+	8	1508	c.1368C>T	c.(1366-1368)gtC>gtT	p.V456V	SFSWAP_uc010tbn.1_Silent_p.V456V|SFSWAP_uc001ujb.1_Silent_p.V249V|SFSWAP_uc001uiz.1_Silent_p.V330V	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	456					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCCCCGACGTCCAGCCCGTGA	0.602000														30			11		0	0	0.008291	0	0
F9	2158	broad.mit.edu	37	X	138623299	138623299	+	Silent	SNP	C	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:138623299C>G	uc004fas.1	+	3	371	c.342C>G	c.(340-342)tcC>tcG	p.S114S	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	114	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ACATTAATTCCTATGAATGTT	0.368000														4			22		0	0	0.002780	0	0
SIRT4	23409	broad.mit.edu	37	12	120741753	120741753	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:120741753C>T	uc001tyc.3	+	1	448	c.389C>T	c.(388-390)aCc>aTc	p.T130I		NM_012240	NP_036372	Q9Y6E7	SIRT4_HUMAN	Homo sapiens sirtuin 4 (SIRT4), mRNA.	130	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTTGAGCACCTGGGAGAAA	0.597000														39			13		0	0	0.001368	0	0
LMO7	4008	broad.mit.edu	37	13	76415295	76415295	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:76415295C>T	uc021rkq.1	+	22	3968	c.3633C>T	c.(3631-3633)gcC>gcT	p.A1211A	LMO7_uc010thv.2_Silent_p.A929A|LMO7_uc001vjt.1_Silent_p.A877A|LMO7_uc001vjv.3_Silent_p.A978A|LMO7_uc010thw.2_Silent_p.A855A|LMO7_uc001vjw.1_Silent_p.A884A	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1263						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAAAGGGCCAAACAGGAGG	0.378000														32			18		0	0	0.002299	0	0
OR8H2	390151	broad.mit.edu	37	11	55872764	55872764	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55872764C>T	uc010riy.2	+	0	246	c.246C>T	c.(244-246)acC>acT	p.T82T		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CACCTAAAACCTTAGCGAACT	0.433000										HNSCC(53;0.14)				478			76		0	0	0.003610	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994088	143994088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:143994088C>T	uc003yxk.1	-	7	1259	c.1256G>A	c.(1255-1257)aGg>aAg	p.R419K		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	419					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CCGCTCAGGCCTCGGGAACAA	0.617000									Familial Hyperaldosteronism type I					123			24		0	0	0.004656	0	0
H2AFV	94239	broad.mit.edu	37	7	44880610	44880610	+	Splice_Site	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:44880610A>T	uc003tma.2	-	3	237	c.82_splice	c.e3-1	p.F28_splice	H2AFV_uc003tlz.2_Splice_Site_p.F28_splice|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Splice_Site_p.F28_splice|H2AFV_uc003tmd.2_Splice_Site_p.F2_splice	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	Homo sapiens H2A histone family, member V (H2AFV), transcript variant 1, mRNA.	28					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GCCCACAGGAAACTAAAAGAG	0.473000														65			45		0	0	0.003610	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229720	87229720	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:87229720G>A	uc003ydq.1	-	2	1256	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	SLC7A13_uc003ydr.1_Silent_p.P377P	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	386						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TAGATAGATTGGGTTCCTGGT	0.284000														81			19		0	0	0.001523	0	0
IMP4	92856	broad.mit.edu	37	2	131103620	131103620	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:131103620C>T	uc002tra.1	+	6	641	c.624C>T	c.(622-624)ccC>ccT	p.P208P		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	Homo sapiens IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP4), mRNA.	208	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	ATP binding|aminoacyl-tRNA ligase activity|protein binding	p.P208P(2)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					ACCTATTTCCCGTGCCCAAAG	0.592000														31			20		0	0	0.001882	0	0
GPR174	84636	broad.mit.edu	37	X	78427122	78427122	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:78427122G>A	uc004edg.1	+	0	654	c.618G>A	c.(616-618)tgG>tgA	p.W206*		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATTGTACCTGGAAGACGGTTT	0.453000										HNSCC(63;0.18)				2			29		0	0	0.005443	0	0
CUL9	23113	broad.mit.edu	37	6	43154031	43154031	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:43154031C>T	uc003ouk.3	+	3	1164	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	CUL9_uc003ouj.1_Silent_p.F363F|CUL9_uc003oul.3_Silent_p.F363F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	363					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGTGGGTCTTCCGCCAGCGCT	0.577000														138			17		0	0	0.001523	0	0
CNPPD1	27013	broad.mit.edu	37	2	220038093	220038093	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:220038093G>A	uc002vju.4	-	6	821	c.669C>T	c.(667-669)tcC>tcT	p.S223S	CNPPD1_uc002vjv.3_Silent_p.S223S	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	223					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						GCTGGCAGAGGGAGCCCAGGG	0.622000														29			19		0	0	0.001882	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110441657	110441657	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:110441657G>A	uc003yne.3	+	25	3193	c.3089G>A	c.(3088-3090)gGa>gAa	p.G1030E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1030					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)			CATGTACTTGGAGACCTACTT	0.328000										HNSCC(38;0.096)				37			4		0	0	0.000602	0	0
MGRN1	23295	broad.mit.edu	37	16	4731613	4731613	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:4731613C>T	uc002cxa.3	+	12	1331	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	MGRN1_uc002cwz.3_Silent_p.L398L|MGRN1_uc010uxo.2_Silent_p.L376L|MGRN1_uc010uxp.2_Silent_p.L376L|MGRN1_uc010btw.3_Silent_p.L377L|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	398					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCAACGGCCTCCGGGCTGTCT	0.657000														23			18		0	0	0.001882	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34823398	34823398	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:34823398C>T	uc003oju.4	+	8	1272	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Intron|UHRF1BP1_uc010jvo.3_5'Flank	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	346										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TTATAGGTGTCTCTGCCAACA	0.458000														143			32		0	0	0.003755	0	0
TRIM48	79097	broad.mit.edu	37	11	55036761	55036761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:55036761G>A	uc010rid.2	+	4	708	c.622G>A	c.(622-624)Gcg>Acg	p.A208T		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	192						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCTGAATCTAGCGCTCAGGGC	0.493000														22			22		0	0	0.005443	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490949	48490949	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:48490949C>T	uc003gyc.2	+	2	1526	c.1307C>T	c.(1306-1308)tCt>tTt	p.S436F	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	436						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCTCAGACTTCTCTCTAAATG	0.353000														56			33		0	0	0.004878	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276730	42276730	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:42276730C>T	uc021sjp.1	-	18	2290	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K	PLA2G4E_uc010udc.2_Missense_Mutation_p.E207K|PLA2G4E_uc001zov.2_Missense_Mutation_p.E388K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	752	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGGTAGCATTCCTTGAGATTT	0.502000														21			12		0	0	0.002450	0	0
DNAH17	8632	broad.mit.edu	37	17	76457737	76457737	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:76457737C>T	uc010dhp.2	-	57	9353	c.9228G>A	c.(9226-9228)aaG>aaA	p.K3076K	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCTCTCATTCTTCTGCTTGA	0.557000														14			8		0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27800886	27800886	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:27800886G>A	uc002rkz.4	+	0	1498	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	483								p.D483H(3)		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)					AGAGCCACTAGATCAAGTCAC	0.423000														46			18		0	0	0.004990	0	0
CCDC19	25790	broad.mit.edu	37	1	159860371	159860371	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:159860371G>A	uc001fui.3	-	2	189	c.171C>T	c.(169-171)ctC>ctT	p.L57L	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.L57L	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	57						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCTTATCTCGGAGCAGCACAA	0.542000														122			39		0	0	0.002522	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795664	68795664	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:68795664T>G	uc003hdr.1	-	4	545	c.424A>C	c.(424-426)Atc>Ctc	p.I142L	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.I139L	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	142	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TGATTTAAGATGCTTTGGATT	0.403000														36			34		0	0	0.003271	0	0
GGT5	2687	broad.mit.edu	37	22	24622695	24622695	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:24622695C>T	uc002zzp.4	-	6	1359	c.942G>A	c.(940-942)ggG>ggA	p.G314G	GGT5_uc002zzo.4_Silent_p.G314G|GGT5_uc002zzr.4_Silent_p.G282G|GGT5_uc002zzq.4_Silent_p.G282G|GGT5_uc011ajm.2_Silent_p.G237G|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	314					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CGTTCACCCTCCCTTCAGGCC	0.572000														67			36		0	0	0.006999	0	0
METTL2A	339175	broad.mit.edu	37	17	60503710	60503710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:60503710C>T	uc002izv.2	+	2	271	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	METTL2A_uc002izw.3_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	85							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CTACAAAATCCACGAAAATGG	0.348000														47			11		0	0	0.001855	0	0
ATF6B	1388	broad.mit.edu	37	6	32087714	32087715	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:32087714_32087715GG>AA	uc003nzn.3	-	8	885_886	c.852_853CC>TT	c.(850-855)atccag>atTTag	p.Q285*	TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Nonsense_Mutation_p.Q282*|ATF6B_uc003nzp.1_5'UTR	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	285					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATAGCACCCTGGATGAGGACAA	0.619000														525			186		0	0	0.004672	0	0
MMP24	10893	broad.mit.edu	37	20	33842507	33842507	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr20:33842507C>T	uc002xbu.2	+	3	770	c.767C>T	c.(766-768)aCc>aTc	p.T256I	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	256					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAGGAGACACCCACTTTGAC	0.562000														123			36		0	0	0.005524	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764947	77764947	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:77764947G>A	uc003yau.2	+	9	6177	c.5790G>A	c.(5788-5790)aaG>aaA	p.K1930K	ZFHX4_uc003yaw.1_Silent_p.K1885K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1885						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACAGGCAGAAGGTACAGAAGA	0.413000										HNSCC(33;0.089)				78			17		0	0	0.007413	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093719	43093719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:43093719C>T	uc002oud.2	-	2	695	c.593G>A	c.(592-594)aGg>aAg	p.R198K	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	198	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AGTGAGGGTCCTGTTGCCATT	0.522000														87			54		0	0	0.003610	0	0
CEP112	201134	broad.mit.edu	37	17	63898358	63898358	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:63898358C>T	uc002jfl.3	-	19	2294	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q	CEP112_uc010deo.3_Missense_Mutation_p.R434Q|CEP112_uc002jfm.3_Missense_Mutation_p.R692Q|CEP112_uc010dep.2_Missense_Mutation_p.R650Q	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	692						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTCAATTTCCCGTTCATGGTC	0.443000														56			20		0	0	0.001523	0	0
DKK1	22943	broad.mit.edu	37	10	54074346	54074346	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:54074346G>A	uc001jjr.3	+	0	306	c.152G>A	c.(151-153)gGc>gAc	p.G51D	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	51					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						CCGCTGGGCGGCGCTGCGGGG	0.657000											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			13		0	0	0.002450	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103457	55103457	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:55103457C>T	uc002lgo.3	+	0	541	c.509C>T	c.(508-510)cCt>cTt	p.P170L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	170	Poly-His.				organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TTccaccaccctcacccgcac	0.667000														5			3		0	0	0.004672	0	0
ASH1L	55870	broad.mit.edu	37	1	155450033	155450034	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:155450033_155450034GG>AA	uc009wqq.3	-	2	3107_3108	c.2627_2628CC>TT	c.(2626-2628)tcc>tTT	p.S876F	ASH1L_uc001fkt.3_Missense_Mutation_p.S876F|ASH1L_uc009wqr.1_Missense_Mutation_p.S876F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	876					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTGTTTGAAGGAAGGGATTTC	0.421000														53			139		0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21805179	21805179	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:21805179G>A	uc003svc.3	+	55	9126	c.9095G>A	c.(9094-9096)aGg>aAg	p.R3032K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3032	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						GTCAGCAGGAGGTTCATTGAG	0.537000									Kartagener syndrome					20			7		0	0	0.001984	0	0
HERPUD1	9709	broad.mit.edu	37	16	56973251	56973251	+	Silent	SNP	A	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:56973251A>T	uc002eke.1	+	4	943	c.534A>T	c.(532-534)gcA>gcT	p.A178A	HERPUD1_uc002ekf.1_Silent_p.A177A|HERPUD1_uc002ekg.1_Silent_p.A153A|HERPUD1_uc010cco.1_Silent_p.A239A|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	178						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AGATATATGCACGACAGTACT	0.527000			T	ERG	prostate									114			48		0	0	0.003610	0	0
PHLPP1	23239	broad.mit.edu	37	18	60384439	60384439	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:60384439T>G	uc021ule.1	+	0	1768	c.1523T>G	c.(1522-1524)gTg>gGg	p.V508G		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	508					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTGTGGAGGGTGCAGGAGGAA	0.582000														21			11		0	0	0.000978	0	0
CDR1	1038	broad.mit.edu	37	X	139866474	139866474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:139866474G>A	uc004fbg.1	-	0	250	c.58C>T	c.(58-60)Cct>Tct	p.P20S	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	20	23 X 6 AA approximate repeats.									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)				TCCAACAAAGGTATGTCTTCC	0.423000														14			98		0	0	0.003610	0	0
AP3B2	8120	broad.mit.edu	37	15	83345327	83345327	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:83345327C>T	uc010uoi.2	-	13	1728	c.1551G>A	c.(1549-1551)agG>agA	p.R517R	AP3B2_uc010uoh.2_Silent_p.R517R|AP3B2_uc010uoj.2_Silent_p.R485R|AP3B2_uc010uog.2_Silent_p.R153R	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	517					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGGTGCAATCCTGGGGACAT	0.527000														14			24		0	0	0.003954	0	0
VWA2	340706	broad.mit.edu	37	10	116049153	116049153	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:116049153G>A	uc001lbl.1	+	11	2348	c.2027G>A	c.(2026-2028)cGg>cAg	p.R676Q	VWA2_uc001lbk.1_Missense_Mutation_p.R676Q|VWA2_uc009xyf.1_Missense_Mutation_p.R372Q	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	676	VWFA 3.					extracellular region		p.L675_R676insGGL(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GAGGGTCTGCGGAGGCTTGCA	0.622000														31			7		0	0	0.004482	0	0
CRYBA4	1413	broad.mit.edu	37	22	27026391	27026391	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:27026391G>A	uc003acz.4	+	5	566	c.531G>A	c.(529-531)cgG>cgA	p.R177R		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	177	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	p.R177Q(1)		large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AACATTTCCGGGAGTGGGGCT	0.572000														21			11		0	0	0.000978	0	0
DPYD	1806	broad.mit.edu	37	1	97981388	97981388	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:97981388G>A	uc001drv.3	-	12	1771	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	545					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.P545H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAGACCAAAAGGATTTATAAA	0.458000														24			24		0	0	0.003954	0	0
NUP210L	91181	broad.mit.edu	37	1	154072525	154072525	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:154072525A>C	uc001fdw.3	-	13	1986	c.1914T>G	c.(1912-1914)tgT>tgG	p.C638W	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.C638W	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	638						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTACTTGTCACATTCATTCA	0.403000														184			56		0	0	0.003610	0	0
CFB	629	broad.mit.edu	37	6	31918170	31918170	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31918170G>A	uc003nyj.4	+	11	1892	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	CFB_uc011dor.2_Silent_p.K1040K|CFB_uc003nyi.2_Silent_p.K538K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	538	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	p.I537I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTCAATCAAGGTCAGCGTAG	0.522000														732			110		0	0	0.003610	0	0
UTRN	7402	broad.mit.edu	37	6	144852338	144852338	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:144852338G>A	uc003qkt.3	+	41	6149	c.6057_splice	c.e41+1	p.Q2019_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2019					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACATCAGCAGGTGAGTGCTT	0.443000														11			10		0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82453677	82453677	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:82453677G>A	uc003uhx.2	-	18	14760	c.14471C>T	c.(14470-14472)cCt>cTt	p.P4824L	PCLO_uc003uhv.2_Missense_Mutation_p.P4824L|PCLO_uc003uht.1_Missense_Mutation_p.P266L|PCLO_uc003uhu.1_Missense_Mutation_p.P245L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4686					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						TTCTTTGAGAGGATACCACCT	0.398000														34			20		0	0	0.001882	0	0
LILRB2	10288	broad.mit.edu	37	19	54778659	54778659	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54778659C>T	uc002qfb.3	-	13	1941	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.D558N|LILRB2_uc010yet.2_Missense_Mutation_p.D443N	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	559					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGGTCACATCCTGGGGGGCT	0.632000														51			21		0	0	0.003330	0	0
CCBE1	147372	broad.mit.edu	37	18	57103244	57103244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr18:57103244C>T	uc002lib.3	-	10	1187	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	CCBE1_uc010dpq.3_Missense_Mutation_p.E102K|CCBE1_uc002lia.3_Missense_Mutation_p.E226K	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	373					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CTGGGAAATTCCTGAGGTAAA	0.532000														68			50		0	0	0.003610	0	0
PEX1	5189	broad.mit.edu	37	7	92138668	92138668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:92138668G>A	uc003uly.3	-	8	1741	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	PEX1_uc011khr.2_Missense_Mutation_p.P341S|PEX1_uc010ley.3_Missense_Mutation_p.P549S|PEX1_uc011khs.2_Missense_Mutation_p.P227S|PEX1_uc011kht.1_Intron	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	549					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTAAAAAAGGAAGAATAAAG	0.333000														20			14		0	0	0.001855	0	0
ABCG1	9619	broad.mit.edu	37	21	43711712	43711712	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:43711712C>T	uc011aev.2	+	12	1742	c.1668C>T	c.(1666-1668)tcC>tcT	p.S556S	ABCG1_uc002zam.3_Silent_p.S511S|ABCG1_uc002zan.3_Silent_p.S535S|ABCG1_uc002zao.3_Silent_p.S530S|ABCG1_uc002zap.3_Silent_p.S533S|ABCG1_uc002zaq.3_Silent_p.S545S|ABCG1_uc002zar.3_Silent_p.S544S|ABCG1_uc010gpb.2_Missense_Mutation_p.P186S	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	545	ABC transmembrane type-2.				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)	CCATGACCTCCCTGGTGGCAC	0.662000														9			7		0	0	0.001984	0	0
KIF13A	63971	broad.mit.edu	37	6	17837260	17837260	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:17837260T>C	uc003ncg.4	-	10	1164	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	KIF13A_uc003ncf.3_Missense_Mutation_p.N335S|KIF13A_uc003nch.4_Missense_Mutation_p.N335S|KIF13A_uc003nci.4_Missense_Mutation_p.N335S|KIF13A_uc003ncj.3_Missense_Mutation_p.N11S	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	335					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCTTCATAGTTGTCTGCGGC	0.488000														260			72		0	0	0.003610	0	0
DNAJA2	10294	broad.mit.edu	37	16	47001558	47001558	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:47001558G>A	uc002eeo.2	-	5	586	c.444_splice	c.e5-1	p.G148_splice		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	148					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTCCGCCTTGGCTAAAGCAAG	0.468000														39			40		0	0	0.003610	0	0
KERA	11081	broad.mit.edu	37	12	91445201	91445201	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:91445201C>T	uc001tbl.3	-	2	1600	c.981G>A	c.(979-981)ctG>ctA	p.L327L		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	327					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CATTTCCATCCAGACGGAGGT	0.438000														40			20		0	0	0.008871	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919740	43919740	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:43919740G>A	uc010yny.2	+	3	357	c.274G>A	c.(274-276)Gag>Aag	p.E92K	PLEKHH2_uc002rte.3_Missense_Mutation_p.E92K|PLEKHH2_uc002rtf.3_Missense_Mutation_p.E92K	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	92						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAAGATCTGGAGTCGCTAAT	0.338000														243			95		0	0	0.003610	0	0
RADIL	55698	broad.mit.edu	37	7	4856095	4856095	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4856095G>A	uc003snj.1	-	8	1902	c.1729_splice	c.e8-1	p.S577_splice	RADIL_uc003sng.1_Splice_Site|RADIL_uc003sni.1_Splice_Site_p.S82_splice|RADIL_uc011jwc.1_Splice_Site_p.S337_splice|RADIL_uc011jwd.1_Splice_Site	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	577	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GATGTACAGGGACTGGCGGGG	0.692000														103			10		0	0	0.008291	0	0
DSP	1832	broad.mit.edu	37	6	7580387	7580387	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7580387G>A	uc003mxp.1	+	22	4243	c.3964G>A	c.(3964-3966)Gac>Aac	p.D1322N	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.D1322N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1322	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GACCATTCAGGACAAAAATAA	0.502000														120			21		0	0	0.001882	0	0
ZNF483	158399	broad.mit.edu	37	9	114304657	114304657	+	Missense_Mutation	SNP	C	T	T	rs149958964	byFrequency	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:114304657C>T	uc004bff.2	+	5	1666	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GATAGTTCATCGCTCACACCA	0.418000														18			16		0	0	0.004007	0	0
GPR110	266977	broad.mit.edu	37	6	46996788	46996788	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:46996788C>T	uc003oyt.3	-	1	209	c.10G>A	c.(10-12)Gga>Aga	p.G4R	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G4R	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	4					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						CACAGCACTCCAACTTTCATT	0.483000														54			16		0	0	0.004990	0	0
SLC9A2	6549	broad.mit.edu	37	2	103311508	103311508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:103311508G>A	uc002tca.3	+	6	1664	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	508						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						TTAGTTGTTTGATCATGTGAA	0.363000														46			32		0	0	0.001786	0	0
OTX2	5015	broad.mit.edu	37	14	57270960	57270960	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:57270960G>A	uc001xcq.3	-	3	493	c.219C>T	c.(217-219)atC>atT	p.I73I	OTX2_uc001xcp.3_Silent_p.I65I|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Silent_p.I65I	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	65					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			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)					CTCGCATGAAGATGTCTGGGT	0.597000														20			11		0	0	0.001368	0	0
LOC387647	387647	broad.mit.edu	37	10	29710357	29710357	+	RNA	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:29710357C>T	uc001ium.2	+	2		c.1124C>T			LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|LOC387647_uc001iun.2_Non-coding_Transcript					Homo sapiens patched domain containing 3 pseudogene (LOC387647), non-coding RNA.																		AAATCTTCCTCGTCCCTCCCA	0.483000														16			16		0	0	0.008871	0	0
SGPP2	130367	broad.mit.edu	37	2	223386515	223386515	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:223386515G>A	uc010zlo.2	+	2	408	c.408G>A	c.(406-408)aaG>aaA	p.K136K	SGPP2_uc010zlp.2_Silent_p.K8K	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	136					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		AAGTGGCCAAGGATGTCTTGA	0.468000														50			26		0	0	0.005443	0	0
GPR1	2825	broad.mit.edu	37	2	207041817	207041817	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:207041817C>T	uc021vvl.1	-	0	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E	GPR1_uc002vbl.4_Missense_Mutation_p.G52E|GPR1_uc010fue.3_Missense_Mutation_p.G52E|GPR1_uc010fuf.3_Missense_Mutation_p.G52E	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	52						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TCCTGGAATTCCCAGAACAAA	0.463000														73			67		0	0	0.003610	0	0
FBXO3	26273	broad.mit.edu	37	11	33790420	33790420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:33790420G>A	uc001muz.3	-	2	363	c.335C>T	c.(334-336)cCt>cTt	p.P112L	FBXO3_uc001muy.3_5'UTR|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Missense_Mutation_p.P112L|FBXO3_uc001mvb.1_Missense_Mutation_p.P107L|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	112					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		AACCATCCGAGGACACCTGGG	0.388000														145			37		0	0	0.004878	0	0
FAM117B	150864	broad.mit.edu	37	2	203622041	203622041	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:203622041A>C	uc010zhx.2	+	5	1220	c.1210A>C	c.(1210-1212)Agc>Cgc	p.S404R		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	404										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						AGACAGGGGAAGCAACAACAG	0.572000														188			124		0	0	0.003610	0	0
COLEC10	10584	broad.mit.edu	37	8	120101955	120101955	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:120101955G>A	uc003yoo.3	+	1	282	c.185G>A	c.(184-186)gGa>gAa	p.G62E		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	62	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGAGAAGAGGGAAAGCATGGC	0.413000														34			11		0	0	0.001855	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475829	27475830	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:27475829_27475830GG>AA	uc002dov.2	-	33	5723_5724	c.5683_5684CC>TT	c.(5683-5685)ccc>TTc	p.P1895F	GTF3C1_uc002dou.3_Missense_Mutation_p.P1895F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1895						transcription factor TFIIIC complex	DNA binding|protein binding	p.A1894A(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCAAGGCTGGGGGCCAAATTT	0.668000														69			29		0	0	0.004672	0	0
DNAH11	8701	broad.mit.edu	37	7	21737789	21737789	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:21737789C>T	uc003svc.3	+	36	6190	c.6159C>T	c.(6157-6159)ttC>ttT	p.F2053F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2053	AAA 1 (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						CCCGAAAGTTCATTACGTTGT	0.433000									Kartagener syndrome					48			16		0	0	0.004990	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747303	7747303	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:7747303C>T	uc002mhi.1	+	1	234	c.164C>T	c.(163-165)gCc>gTc	p.A55V	TRAPPC5_uc002mhj.1_Missense_Mutation_p.A55V|TRAPPC5_uc002mhk.1_Missense_Mutation_p.A55V|TRAPPC5_uc021unw.1_Missense_Mutation_p.A55V	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	55					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						TCGCGCCTGGCCGCGCTGGGC	0.701000														0			3		0	0	0.004672	0	0
IMPG2	50939	broad.mit.edu	37	3	100964675	100964675	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:100964675C>T	uc003duq.2	-	11	1717	c.1514G>A	c.(1513-1515)aGg>aAg	p.R505K	IMPG2_uc011bhe.2_Missense_Mutation_p.R368K	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	505					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCCAGAAGTCCTTTCCTCAGA	0.463000														105			38		0	0	0.003610	0	0
NHS	4810	broad.mit.edu	37	X	17745857	17745857	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:17745857G>A	uc011mix.2	+	6	3969	c.3631G>A	c.(3631-3633)Gga>Aga	p.G1211R	NHS_uc004cxx.3_Missense_Mutation_p.G1190R|NHS_uc004cxy.3_Missense_Mutation_p.G1034R|NHS_uc004cxz.3_Missense_Mutation_p.G1013R|NHS_uc004cya.3_Missense_Mutation_p.G913R	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1190						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTTGAGATGGGACCAGATAA	0.393000														5			45		0	0	0.003610	0	0
RADIL	55698	broad.mit.edu	37	7	4856006	4856006	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:4856006C>T	uc003snj.1	-	7	1992	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.E112K|RADIL_uc011jwc.1_Missense_Mutation_p.E367K|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	607	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGCAGCTCCTCGGGCAGTTCG	0.701000														65			40		0	0	0.002522	0	0
KALRN	8997	broad.mit.edu	37	3	124418856	124418856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:124418856G>A	uc003ehg.3	+	55	8099	c.7972G>A	c.(7972-7974)Gag>Aag	p.E2658K	KALRN_uc003ehk.3_Missense_Mutation_p.E961K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2657	Fibronectin type-III.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGAGCCCTCGGAGTTTGTGCG	0.597000														98			38		0	0	0.002522	0	0
KIAA0513	9764	broad.mit.edu	37	16	85111229	85111229	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:85111229G>A	uc002fiu.3	+	5	993	c.773G>A	c.(772-774)aGg>aAg	p.R258K	KIAA0513_uc010voj.2_Missense_Mutation_p.R258K|KIAA0513_uc002fit.3_Missense_Mutation_p.R258K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	258						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCCCTGGCCAGGAGGAACGAG	0.672000														31			13		0	0	0.001855	0	0
ANTXR1	84168	broad.mit.edu	37	2	69420468	69420468	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:69420468G>A	uc002sfg.3	+	17	1710	c.1354_splice	c.e17-1	p.G452_splice		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	452					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTATTTCAGGGAAAACTCGAT	0.468000									Familial Infantile Hemangioma					79			26		0	0	0.005443	0	0
SUOX	6821	broad.mit.edu	37	12	56397697	56397697	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr12:56397697C>T	uc001six.3	+	5	850	c.524C>T	c.(523-525)cCt>cTt	p.P175L	SUOX_uc001siy.3_Missense_Mutation_p.P175L|SUOX_uc001siz.3_Missense_Mutation_p.P175L|SUOX_uc001sja.3_Missense_Mutation_p.P175L	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175	Hinge (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	p.D174N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACCTCTGACCCTTATGCTGAT	0.547000														50			21		0	0	0.001523	0	0
LHCGR	3973	broad.mit.edu	37	2	48915873	48915873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:48915873C>T	uc002rwu.4	-	10	1133	c.1063G>A	c.(1063-1065)Gat>Aat	p.D355N	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	355					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)	CCCATAATATCTTCACAGGGA	0.443000														85			36		0	0	0.004878	0	0
FLVCR2	55640	broad.mit.edu	37	14	76107327	76107327	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:76107327G>A	uc001xrs.2	+	6	1641	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	FLVCR2_uc010tvd.1_Missense_Mutation_p.G217E	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	422					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTCCCACTGGGATTTGAGTTT	0.502000														40			30		0	0	0.003755	0	0
LILRB1	10859	broad.mit.edu	37	19	55144101	55144102	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:55144101_55144102CC>TT	uc002qgj.3	+	6	1188_1189	c.848_849CC>TT	c.(847-849)acc>aTT	p.T283I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.T283I|LILRB1_uc002qgk.3_Missense_Mutation_p.T283I|LILRB1_uc002qgm.3_Missense_Mutation_p.T283I|LILRB1_uc010erq.3_Missense_Mutation_p.T283I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	283	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCAACTTCACCCTGGGCCCTG	0.634000										HNSCC(37;0.09)				57			22		0	0	0.004672	0	0
COL14A1	7373	broad.mit.edu	37	8	121383402	121383402	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:121383402G>A	uc003yox.3	+	47	5588	c.5323G>A	c.(5323-5325)Gat>Aat	p.D1775N		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1775	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCCCATCCAGATCAGCCAGA	0.522000														212			33		0	0	0.004878	0	0
PGP	283871	broad.mit.edu	37	16	2263819	2263819	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:2263819A>C	uc002cpk.1	-	1	920	c.876T>G	c.(874-876)aaT>aaG	p.N292K	C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	292					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CACTTTCCTGATTATTCTTCA	0.517000														62			19		0	0	0.007413	0	0
SORCS1	114815	broad.mit.edu	37	10	108339231	108339231	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:108339231G>A	uc001kyl.3	-	25	3448	c.3266_splice	c.e25-1	p.A1089_splice	SORCS1_uc021pxw.1_Splice_Site_p.A1089_splice|SORCS1_uc009xxs.3_Splice_Site_p.A1089_splice|SORCS1_uc001kym.3_Splice_Site_p.A1089_splice|SORCS1_uc001kyn.2_Splice_Site_p.A1089_splice|SORCS1_uc001kyo.3_Splice_Site_p.A1089_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1089						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACCAGGGGGGCTTGTGGGG	0.522000														32			13		0	0	0.001368	0	0
ACSL6	23305	broad.mit.edu	37	5	131309017	131309017	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:131309017G>A	uc003kvx.2	-	11	1254	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.A347V|ACSL6_uc003kvy.2_Missense_Mutation_p.A382V|ACSL6_uc003kvz.2_Missense_Mutation_p.A282V|ACSL6_uc021ydh.1_Missense_Mutation_p.A282V|ACSL6_uc010jdo.2_Missense_Mutation_p.A357V|ACSL6_uc003kwa.2_Missense_Mutation_p.A368V|ACSL6_uc003kvw.2_Missense_Mutation_p.A3V|ACSL6_uc010jdn.2_Missense_Mutation_p.A372V|ACSL6_uc010jdp.1_Non-coding_Transcript	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	357					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGCATAGAGCCTTCATGTC	0.557000														75			24		0	0	0.004656	0	0
PIGR	5284	broad.mit.edu	37	1	207106416	207106416	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:207106416C>T	uc001hez.3	-	6	1985	c.1801G>A	c.(1801-1803)Gat>Aat	p.D601N	PIGR_uc009xbz.3_Missense_Mutation_p.D601N	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	601						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCTGGGATCCTGAATGGCT	0.537000														75			26		0	0	0.004656	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113208409	113208409	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr13:113208409G>A	uc001vse.1	-	7	1115	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q300*|TUBGCP3_uc001vsf.3_Nonsense_Mutation_p.Q310*|TUBGCP3_uc001vsg.1_Nonsense_Mutation_p.Q310*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	310					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AGGCTCCTCTGGTCCGTGTAT	0.483000														48			23		0	0	0.003330	0	0
GPR15	2838	broad.mit.edu	37	3	98251703	98251703	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:98251703C>T	uc011bgy.2	+	0	826	c.826C>T	c.(826-828)Ccc>Tcc	p.P276S		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	276						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACACTATTTACCCTCAGCTAT	0.468000														56			23		0	0	0.005443	0	0
GPR4	2828	broad.mit.edu	37	19	46094512	46094512	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:46094512G>A	uc002pcm.3	-	1	1558	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.L205L	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	205						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACGGCCCGCAGGATGCCCCGG	0.657000														30			13		0	0	0.001855	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726745	25726745	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:25726745C>T	uc003nfc.3	-	0	46	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCTTCCCTCGTCCAGACAT	0.522000														115			16		0	0	0.008871	0	0
FCRL1	115350	broad.mit.edu	37	1	157772381	157772381	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:157772381G>A	uc001frg.3	-	3	506	c.393C>T	c.(391-393)gtC>gtT	p.V131V	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.V131V|FCRL1_uc001fri.3_Silent_p.V131V|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	131	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCAGATGAGGACCAGCCTGT	0.537000														12			41		0	0	0.008740	0	0
FBN3	84467	broad.mit.edu	37	19	8156470	8156470	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:8156470G>A	uc002mjf.3	-	46	5927	c.5910C>T	c.(5908-5910)atC>atT	p.I1970I	FBN3_uc002mje.3_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1970	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.I1970I(4)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCACTCGTCGATATCTGGAA	0.602000														22			21		0	0	0.002299	0	0
GPRIN3	285513	broad.mit.edu	37	4	90171111	90171111	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:90171111G>A	uc003hsm.1	-	1	670	c.151C>T	c.(151-153)Cct>Tct	p.P51S	GPRIN3_uc021xqb.1_Missense_Mutation_p.P51S	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	51										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGTTCTGCAGGGGCACCTGAA	0.562000														32			32		0	0	0.002096	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887200	1887200	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:1887200G>A	uc001aim.1	-	17	2262	c.2106C>T	c.(2104-2106)tcC>tcT	p.S702S	KIAA1751_uc009vkz.1_Silent_p.S702S	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	702										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)		TGTCCGCCTGGGAGGACTCCG	0.607000														75			22		0	0	0.002299	0	0
POU5F1	5460	broad.mit.edu	37	6	31133377	31133377	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:31133377C>T	uc003nsv.3	-	2	682	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	POU5F1_uc003nsu.3_Missense_Mutation_p.E39K|POU5F1_uc021yuj.1_Missense_Mutation_p.E39K|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	210	POU-specific.				BMP signaling pathway involved in heart induction|anatomical structure morphogenesis|blastocyst development|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of SMAD protein import into nucleus|positive regulation of catenin import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						TTGTCAGCTTCCTCCACCCAC	0.527000			T	EWSR1	sarcoma									99			10		0	0	0.006214	0	0
CLU	1191	broad.mit.edu	37	8	27455997	27455997	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:27455997C>T	uc003xfy.2	-	7	1500	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	CLU_uc003xfw.2_Silent_p.Q440Q|CLU_uc003xfx.2_Silent_p.Q440Q|CLU_uc003xfz.2_Silent_p.Q440Q	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	440					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGCGGTATTCCTGCAGCGCTT	0.537000														73			37		0	0	0.004878	0	0
NXN	64359	broad.mit.edu	37	17	722783	722783	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:722783G>A	uc002fsa.3	-	4	796	c.716C>T	c.(715-717)tCg>tTg	p.S239L	NXN_uc002fsb.1_Missense_Mutation_p.S126L|NXN_uc010vqd.2_5'UTR|NXN_uc010vqe.2_Missense_Mutation_p.S131L	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	239	Thioredoxin.				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity	p.S239S(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGACTCCTCCGACCTACAGAG	0.617000														16			18		0	0	0.007413	0	0
DSP	1832	broad.mit.edu	37	6	7584736	7584736	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr6:7584736G>T	uc003mxp.1	+	23	7520	c.7241G>T	c.(7240-7242)gGa>gTa	p.G2414V	DSP_uc003mxq.1_Missense_Mutation_p.G1815V|DSP_uc021yle.1_Missense_Mutation_p.G1971V	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2414	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATACCAAAGGATTTTTTGAC	0.408000														134			35		1.06647e-15	1.59874e-15	0.003755	1	0
TTC3	7267	broad.mit.edu	37	21	38512909	38512909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr21:38512909C>T	uc002yvz.3	+	19	1813	c.1708C>T	c.(1708-1710)Ccc>Tcc	p.P570S	TTC3_uc011aee.1_Missense_Mutation_p.P260S|TTC3_uc002ywa.3_Missense_Mutation_p.P570S|TTC3_uc002ywb.3_Missense_Mutation_p.P570S|TTC3_uc010gnf.3_Missense_Mutation_p.P335S|TTC3_uc002ywc.3_Missense_Mutation_p.P260S|TTC3_uc011aed.1_Missense_Mutation_p.P260S|TTC3_uc010gne.1_Missense_Mutation_p.P570S	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	570					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGAACACTACCCCAGTGAGGG	0.368000														69			48		0	0	0.003610	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605633	13605633	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:13605633G>A	uc003gmz.1	-	9	3008	c.2891C>T	c.(2890-2892)cCt>cTt	p.P964L	BOD1L1_uc010idr.1_Missense_Mutation_p.P301L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	964	Lys-rich.						DNA binding										TTCTTCAAAAGGTTTGTCTTC	0.408000														443			68		0	0	0.003610	0	0
VANGL1	81839	broad.mit.edu	37	1	116206695	116206695	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:116206695C>T	uc001efv.1	+	3	889	c.618C>T	c.(616-618)gtC>gtT	p.V206V	VANGL1_uc009wgy.1_Silent_p.V204V|VANGL1_uc021ose.1_Silent_p.V206V	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	206					multicellular organismal development	integral to membrane	protein binding	p.G205W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTTACGGGGTCCGCATTTTGG	0.517000														111			50		0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200969679	200969679	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:200969679C>T	uc001gvs.2	-	10	1841	c.1524G>A	c.(1522-1524)cgG>cgA	p.R508R	KIF21B_uc009wzl.2_Silent_p.R508R|KIF21B_uc001gvr.2_Silent_p.R508R|KIF21B_uc010ppn.2_Silent_p.R508R	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	508					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TAGCCGAGGCCCGTGAGAGGC	0.662000														65			18		0	0	0.001882	0	0
CDS1	1040	broad.mit.edu	37	4	85525463	85525463	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:85525463C>T	uc011ccv.2	+	1	683	c.185C>T	c.(184-186)cCa>cTa	p.P62L		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	62					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CCGGAAATTCCACCATCCTCA	0.343000														29			23		0	0	0.003330	0	0
FOXA3	3171	broad.mit.edu	37	19	46375569	46375569	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:46375569G>A	uc002pdr.3	+	1	503	c.306G>A	c.(304-306)ggG>ggA	p.G102G		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	102					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGTGCACGGGAAGGAGATGC	0.687000														22			15		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9090331	9090331	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:9090331G>A	uc002mkp.3	-	0	1688	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	495	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S494R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCTGTGCTGGAACTCTGCCT	0.532000														30			34		0	0	0.004289	0	0
C10orf46	143384	broad.mit.edu	37	10	120450808	120450808	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:120450808G>A	uc001lds.1	-	6	1478	c.994C>T	c.(994-996)Caa>Taa	p.Q332*	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	332					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		AGTTCTCTTTGAAATTTCTGA	0.388000														94			71		0	0	0.003610	0	0
FSCN1	6624	broad.mit.edu	37	7	5633104	5633104	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:5633104C>T	uc003sou.3	+	0	669	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	179					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCATCACCCTCGCCTTCCAGG	0.736000														92			23		0	0	0.003954	0	0
VPS13C	54832	broad.mit.edu	37	15	62217698	62217698	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:62217698C>T	uc002agz.3	-	52	6657	c.6566G>A	c.(6565-6567)gGa>gAa	p.G2189E	VPS13C_uc002aha.3_Missense_Mutation_p.G2146E|VPS13C_uc002ahb.2_Missense_Mutation_p.G2189E|VPS13C_uc002ahc.2_Missense_Mutation_p.G2146E	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2189					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATTTTGCTTTCCTGAAGCCCA	0.284000														6			3		0	0	0.004672	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170368	72170368	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:72170368C>T	uc002fcc.4	-	8	1354	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	PMFBP1_uc002fcd.3_Silent_p.K394K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K249K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	394								p.K394Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCAAAGTGAGCTTTTGGGTCT	0.547000														74			28		0	0	0.007291	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596920	104596920	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr10:104596920G>A	uc001kwg.3	-	0	371	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	67					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTGCCCATACGAACCGAATAG	0.542000														51			27		0	0	0.002096	0	0
PRTG	283659	broad.mit.edu	37	15	55921201	55921201	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr15:55921201C>T	uc002adg.3	-	16	2672	c.2624_splice	c.e16-1	p.G875_splice		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	875	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTTATTGCCCCTAGAAATA	0.318000														16			10		0	0	0.008291	0	0
PRKCG	5582	broad.mit.edu	37	19	54396328	54396328	+	Splice_Site	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:54396328A>C	uc002qcq.1	+	8	1191	c.909_splice	c.e8+1	p.E303_splice	PRKCG_uc010eqz.1_Splice_Site_p.E303_splice|PRKCG_uc010yef.1_Intron|PRKCG_uc010yeg.1_Splice_Site_p.E303_splice|PRKCG_uc010yeh.1_Splice_Site_p.E190_splice|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	303					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAGAAGTTTGAGGTACCCAGA	0.597000														23			8		0	0	0.003080	0	0
VAT1L	57687	broad.mit.edu	37	16	78005799	78005799	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:78005799T>A	uc002ffg.1	+	7	1227	c.1130T>A	c.(1129-1131)aTt>aAt	p.I377N		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	377							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGCAAGTTAATTCTGGATGTA	0.527000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		152			69		0	0	0.003610	0	0
FGD5	152273	broad.mit.edu	37	3	14949198	14949198	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr3:14949198G>A	uc003bzc.3	+	9	3426	c.3316G>A	c.(3316-3318)Gat>Aat	p.D1106N	FGD5_uc011avk.2_Missense_Mutation_p.D1106N|FGD5_uc003bzd.3_Missense_Mutation_p.D184N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1106					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						GGGCCAAGGGGATCTCCTCCA	0.647000														33			14		0	0	0.004007	0	0
NAE1	8883	broad.mit.edu	37	16	66844305	66844305	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:66844305G>A	uc002eqf.3	-	14	1199	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	NAE1_uc002eqe.3_Silent_p.S368S|NAE1_uc002eqg.3_Silent_p.S285S|NAE1_uc010cdv.3_Silent_p.S377S	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	374					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TCTCTGAAATGGACTCTGGTG	0.378000														63			33		0	0	0.006230	0	0
MOV10L1	54456	broad.mit.edu	37	22	50580554	50580554	+	Silent	SNP	G	A	A			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr22:50580554G>A	uc003bjj.3	+	15	2198	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	MOV10L1_uc003bjk.4_Silent_p.E705E|MOV10L1_uc011arp.2_Silent_p.E685E|MOV10L1_uc011arq.1_Silent_p.E466E|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	705					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.E705D(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACAGAGGAGAGGCGTGTTG	0.478000														69			91		0	0	0.003610	0	0
DDHD1	80821	broad.mit.edu	37	14	53558541	53558541	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:53558541C>T	uc001xai.3	-	3	1481	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	DDHD1_uc001xaj.3_Silent_p.Q424Q|DDHD1_uc001xah.3_Silent_p.Q417Q|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	417					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGTCCATTTTCTGCCCAATGC	0.373000														42			27		0	0	0.002096	0	0
TAOK1	57551	broad.mit.edu	37	17	27816697	27816697	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:27816697C>T	uc002hdz.2	+	8	865	c.671C>T	c.(670-672)cCt>cTt	p.P224L	TAOK1_uc010wbe.2_Missense_Mutation_p.P224L|TAOK1_uc002heb.1_Missense_Mutation_p.P50L	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	224	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGGAAGCCTCCTTTATTTAAT	0.348000														63			20		0	0	0.001523	0	0
ACSM1	116285	broad.mit.edu	37	16	20702372	20702372	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr16:20702372C>T	uc002dhm.1	-	0	207	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.E47K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	47					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTAAATTCCTCCGGTACTTCA	0.488000														56			36		0	0	0.004289	0	0
CSMD3	114788	broad.mit.edu	37	8	113599463	113599463	+	Splice_Site	SNP	A	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:113599463A>C	uc003ynu.3	-	23	3875	c.3716_splice	c.e23-1	p.A1239_splice	CSMD3_uc003yns.3_Splice_Site_p.A511_splice|CSMD3_uc003ynt.3_Splice_Site_p.A1199_splice|CSMD3_uc011lhx.2_Splice_Site_p.A1135_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1239	Sushi 6.					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						CACCACATTCAGCTGCAGGTA	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				105			14		0	0	0.003163	0	0
TYROBP	7305	broad.mit.edu	37	19	36398155	36398155	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr19:36398155T>C	uc002ocm.3	-	3	322	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E	TYROBP_uc002ocn.3_Missense_Mutation_p.K80E|TYROBP_uc021uta.1_Missense_Mutation_p.K70E|TYROBP_uc021utb.1_Missense_Mutation_p.K69E|TYROBP_uc021utc.1_Non-coding_Transcript	NM_003332	NP_003323	O43914	TYOBP_HUMAN	Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 1, mRNA.	81					axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATACGCTGTTTCCGGGTCGCT	0.542000														16			5		0	0	0.001168	0	0
PDIA4	9601	broad.mit.edu	37	7	148701261	148701261	+	Silent	SNP	C	T	T			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:148701261C>T	uc003wff.2	-	9	1845	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	521	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCTTGTTGTTCTTGGGCACTG	0.557000														79			43		0	0	0.003610	0	0
PIK3CD	5293	broad.mit.edu	37	1	9770521	9770526	+	In_Frame_Del	DEL	CTGGGG	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:9770521_9770526delCTGGGG	uc001aqe.4	+	1	216_221	c.8_13delCTGGGG	c.(7-15)cctggggtg>ctg	p.3_5PGV>L	PIK3CD_uc001aqa.2_In_Frame_Del_p.3_5PGV>L|PIK3CD_uc001aqb.4_In_Frame_Del_p.3_5PGV>L|PIK3CD_uc010oaf.2_In_Frame_Del_p.3_5PGV>L|PIK3CD_uc021ogb.1_5'UTR	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	3					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.P2H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		AGGATGCCCCCTGGGGTGGACTGCCC	0.529													---	128	---	---	20	---					
C1QC	714	broad.mit.edu	37	1	22973763	22973763	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr1:22973763delG	uc001bgc.4	+	2	328	c.225delG	c.(223-225)aagfs	p.K75fs	C1QC_uc001bga.4_Frame_Shift_Del_p.K75fs	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	75	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAGGGCAGAAGGGAGAACCCG	0.647													---	34	---	---	12	---					
LRRTM1	347730	broad.mit.edu	37	2	80529507	80529518	+	In_Frame_Del	DEL	TCTGATGCATGG	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr2:80529507_80529518delTCTGATGCATGG	uc021vjt.1	-	0	1427_1438	c.1427_1438delCCATGCATCAGA	c.(1426-1440)accatgcatcagatg>atg	p.TMHQ476del	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_In_Frame_Del_p.TMHQ476del	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	476						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.Q475Q(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ATGGCAGCCATCTGATGCATGGTCTGTTTCTG	0.538										HNSCC(69;0.2)			---	30	---	---	15	---					
HERC3	8916	broad.mit.edu	37	4	89601295	89601295	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr4:89601295delT	uc003hrw.1	+	19	2414	c.2248delT	c.(2248-2250)tttfs	p.F750fs	HERC3_uc011cdn.1_Frame_Shift_Del_p.F632fs|HERC3_uc011cdo.1_Frame_Shift_Del_p.F194fs	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	750					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACAAAGGAATTTTTTCTTTT	0.343													---	24	---	---	22	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:32419951_32419953delGGT	uc003jhr.1	-	2	473_475	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P	ZFR_uc010iun.1_In_Frame_Del_p.131_132PP>P	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													---	218	---	---	7	---					
MAPK9	5601	broad.mit.edu	37	5	179665329	179665349	+	Splice_Site	DEL	AACCTGAAGGCTGATCTTTTA	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr5:179665329_179665349delAACCTGAAGGCTGATCTTTTA	uc003mls.4	-	11	1403	c.1132_splice	c.e11+1	p.D378_splice	MAPK9_uc003mlv.4_Splice_Site_p.A378_splice|MAPK9_uc003mlt.4_Splice_Site_p.A378_splice|MAPK9_uc010jlc.3_Splice_Site_p.D378_splice|MAPK9_uc021yji.1_In_Frame_Del_p.346_353VKDQPSG*>E|MAPK9_uc021yjj.1_In_Frame_Del_p.372_379VKDQPSG*>E|MAPK9_uc021yjk.1_In_Frame_Del_p.372_379VKDQPSG*>E	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	378					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding 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|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAATCACTAACCTGAAGGCTGATCTTTTACAACACCATT	0.344													---	155	---	---	9	---					
OR6W1P	89883	broad.mit.edu	37	7	142759847	142759847	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr7:142759847delA	uc003wce.1	-	0	1036	c.577delT	c.(577-579)tccfs	p.S193fs						Homo sapiens olfactory receptor, family 6, subfamily W, member 1 pseudogene (OR6W1P), non-coding RNA.											central_nervous_system(1)|endometrium(2)|lung(1)|skin(1)	5						CCAGAGGAGGAAGGGATGTGC	0.567													---	4	---	---	2	---					
HR	55806	broad.mit.edu	37	8	21978407	21978407	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr8:21978407delT	uc003xas.3	-	10	3097	c.2432delA	c.(2431-2433)gagfs	p.E811fs	HR_uc003xat.3_Frame_Shift_Del_p.E811fs	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	811							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CAGGGCTTTCTCCTGGATCTT	0.677													---	4	---	---	2	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr9:130953109_130953111delGCT	uc011mas.2	-	1	281_283	c.116_118delAGC	c.(115-120)cagctc>ctc	p.Q39del	CIZ1_uc004btr.3_In_Frame_Del_p.Q9del|CIZ1_uc004bts.3_In_Frame_Del_p.Q9del|CIZ1_uc011maq.2_In_Frame_Del_p.Q9del|CIZ1_uc004btu.3_In_Frame_Del_p.Q9del|CIZ1_uc004btt.3_In_Frame_Del_p.Q9del|CIZ1_uc011mar.2_5'UTR|CIZ1_uc004btw.3_In_Frame_Del_p.Q9del|CIZ1_uc004btv.3_In_Frame_Del_p.Q9del|CIZ1_uc004btx.2_In_Frame_Del_p.Q9del	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	9	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													---	5	---	---	3	---					
BSCL2	26580	broad.mit.edu	37	11	62474622	62474633	+	In_Frame_Del	DEL	CTTTTTCCCCAG	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr11:62474622_62474633delCTTTTTCCCCAG	uc001nut.4	-	1	637_648	c.35_46delCTGGGGAAAAAG	c.(34-48)gctggggaaaaagag>gag	p.AGEK12del	BSCL2_uc001nup.3_5'Flank|BSCL2_uc009yoc.2_5'Flank|BSCL2_uc001nur.4_In_Frame_Del_p.AGEK12del|BSCL2_uc009yod.3_In_Frame_Del_p.AGEK12del|HNRNPUL2_uc001nuu.2_Non-coding_Transcript|GNG3_uc001nuv.3_5'Flank	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	336					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CCGCACACCTCTTTTTCCCCAGCTTCCTCCTT	0.514													---	325	---	---	46	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													---	69	---	---	7	---					
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	-	-	rs141326765		TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr14:70924869_70924871delATG	uc021rvq.1	+	0	653_655	c.653_655delATG	c.(652-657)catgat>cat	p.D219del	ADAM21_uc001xmd.3_In_Frame_Del_p.D219del	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	219	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D219A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414													---	43	---	---	8	---					
CCDC40	55036	broad.mit.edu	37	17	78055757	78055757	+	Frame_Shift_Del	DEL	C	-	-	rs61749058	by1000genomes	TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chr17:78055757delC	uc010dht.3	+	11	1920	c.1889delC	c.(1888-1890)gctfs	p.A630fs	CCDC40_uc021uem.1_Frame_Shift_Del_p.A630fs|CCDC40_uc002jxm.4_Frame_Shift_Del_p.A413fs|CCDC40_uc002jxn.4_Frame_Shift_Del_p.A26fs	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	630					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGACGGATGCTGCCATCCGG	0.562													---	27	---	---	10	---					
NRK	203447	broad.mit.edu	37	X	105137893	105137893	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1ZK-06A-11D-A197-08	TCGA-FS-A1ZK-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41a7b031-d928-4a1f-891b-82fb3f6d548f	8bb3517f-9e54-4272-a6c2-a7b8e8cc567d	g.chrX:105137893delA	uc004emd.3	+	5	750	c.447delA	c.(445-447)ttafs	p.L149fs	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	149	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCAGAGTTTAAAAGAAGATT	0.383										HNSCC(51;0.14)			---	4	---	---	18	---					
