Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DCHS1	8642	broad.mit.edu	37	11	6646831	6646831	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:6646831C>G	ENST00000299441.3	-	18	7270	c.6859G>C	c.(6859-6861)Gaa>Caa	p.E2287Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2287	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTCACCTTCTGACACTCGG	0.582000													11	72					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47283284	47283284	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:47283284G>A	ENST00000481889.2	+	5	928	c.760G>A	c.(760-762)Gga>Aga	p.G254R	NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000467728.1_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	0	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CGAGGTGGCTGGAGAAGGGCA	0.582000													5	34					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120158345	120158345	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:120158345G>C	ENST00000392521.2	-	30	3833	c.3778C>G	c.(3778-3780)Caa>Gaa	p.Q1260E	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.Q1218E	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1218	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGGTTTGTTGAGAAATAGTG	0.338000													11	65					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866261	118866261	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:118866261G>C	ENST00000295622.1	+	1	1265	c.1225G>C	c.(1225-1227)Gaa>Caa	p.E409Q	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.E14Q	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	409										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCTTCAGTTGAAATGGAAAC	0.458000													13	62					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27395160	27395160	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:27395160C>T	ENST00000379214.4	-	15	1760	c.1317G>A	c.(1315-1317)ctG>ctA	p.L439L	LGR4_ENST00000389858.4_Silent_p.L415L	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	439						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCACAAGTTTCAGTTGATTTA	0.353000													11	67					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95482606	95482606	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:95482606C>G	ENST00000356884.6	-	4	1105	c.1038G>C	c.(1036-1038)caG>caC	p.Q346H	BICD2_ENST00000375512.3_Missense_Mutation_p.Q346H	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	346					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCTTCAGCTTCTGGATCTCAG	0.627000													11	35					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5993735	5993735	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:5993735G>C	ENST00000574946.1	+	4	1027	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	WSCD1_ENST00000317744.5_Missense_Mutation_p.E213Q|WSCD1_ENST00000539421.1_Missense_Mutation_p.E213Q|WSCD1_ENST00000573634.1_Missense_Mutation_p.E97Q|WSCD1_ENST00000574232.1_Missense_Mutation_p.E213Q			Q658N2	WSCD1_HUMAN	WSC domain containing 1	213	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GTGTAACCATGAGTGCAAAGG	0.657000													14	59					0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269430	123269430	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:123269430C>T	ENST00000451558.1	+	12	1903	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	ASB15_ENST00000540573.1_Missense_Mutation_p.S461L|ASB15_ENST00000434204.1_Missense_Mutation_p.S461L|ASB15_ENST00000451215.1_Missense_Mutation_p.S461L|ASB15_ENST00000275699.3_Missense_Mutation_p.S461L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	461					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTTGTGTGGTCAGAGATACAG	0.418000													20	137					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423492	107423492	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:107423492C>G	ENST00000340010.5	-	10	1350	c.1166G>C	c.(1165-1167)aGa>aCa	p.R389T	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R354T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	389					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAAATCCTCTGAATACTCC	0.463000													21	84					0	0	1	0	0
LYRM4	57128	broad.mit.edu	37	6	5216946	5216946	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:5216946C>G	ENST00000330636.4	-	2	317	c.112G>C	c.(112-114)Gat>Cat	p.D38H	LYRM4_ENST00000500576.2_Missense_Mutation_p.D38H|LYRM4_ENST00000480566.1_Missense_Mutation_p.D38H|LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000464010.1_Missense_Mutation_p.D38H	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	38						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CTGAAGGCATCTCTTATCCTC	0.368000													6	61					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77317892	77317892	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:77317892G>A	ENST00000282849.5	-	23	4045	c.3627C>T	c.(3625-3627)taC>taT	p.Y1209Y	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1209	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1209*(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTGTTTTCCGTAAAACTTGT	0.458000													20	64					0	0	1	0	0
RCCD1	91433	broad.mit.edu	37	15	91503149	91503149	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:91503149C>G	ENST00000394258.2	+	5	901	c.699C>G	c.(697-699)atC>atG	p.I233M	RCCD1_ENST00000555155.1_Missense_Mutation_p.I233M|RCCD1_ENST00000556618.1_Missense_Mutation_p.I233M|RCCD1_ENST00000556774.1_3'UTR	NM_001017919.1|NM_033544.2	NP_001017919.1|NP_291022.2	A6NED2	RCCD1_HUMAN	RCC1 domain containing 1	233										breast(1)|kidney(1)|large_intestine(2)	4	Lung NSC(78;0.0987)|all_lung(78;0.175)		Lung(145;0.189)			ATATTTATATCTGGGGCTGGA	0.562000													14	93					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161461	123161461	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:123161461G>A	ENST00000264501.4	+	29	4997	c.4624G>A	c.(4624-4626)Gaa>Aaa	p.E1542K	KIAA1109_ENST00000455637.1_Missense_Mutation_p.E1542K|KIAA1109_ENST00000388738.3_Missense_Mutation_p.E1542K			Q2LD37	K1109_HUMAN	KIAA1109	1542					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						ACCAACCAGTGAAGAAAGTTC	0.363000													20	54					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38038667	38038667	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:38038667G>A	ENST00000283713.6	+	6	816	c.550G>A	c.(550-552)Gag>Aag	p.E184K	VILL_ENST00000383759.2_Missense_Mutation_p.E184K|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	184					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CAGCATTTCTGAGAAGGCTCG	0.557000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	44					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889373	51889373	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:51889373G>A	ENST00000371117.3	-	32	5510	c.5235C>T	c.(5233-5235)ttC>ttT	p.F1745F	PKHD1_ENST00000340994.4_Splice_Site_p.F1745F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1745					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGACTTACCGAAGTTCTCCG	0.443000													11	80					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501657	48501657	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:48501657G>C	ENST00000412052.1	+	8	1387	c.925G>C	c.(925-927)Gag>Cag	p.E309Q	ATRIP_ENST00000320211.3_Missense_Mutation_p.E402Q|ATRIP_ENST00000346691.4_Missense_Mutation_p.E402Q|ATRIP_ENST00000357105.6_Missense_Mutation_p.E275Q	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	402					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)		AGACCCAGCAGAGGGAGGCAG	0.572000								Other conserved DNA damage response genes					17	92					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19096709	19096709	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:19096709G>C	ENST00000380502.3	-	2	654	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	63					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCAGAACTTGAAACAAAAAA	0.299000													7	25					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74717397	74717397	+	Missense_Mutation	SNP	G	G	A	rs143083511	by1000genomes	TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:74717397G>A	ENST00000410003.1	+	4	268	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	TTC31_ENST00000233623.5_Missense_Mutation_p.E87K|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000442235.2_5'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	87							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CTTGGATGATGAAGGGAAATC	0.572000													8	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179613803	179613803	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:179613803C>T	ENST00000360870.5	-	46	13546	c.13324G>A	c.(13324-13326)Gaa>Aaa	p.E4442K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	570	Ig-like 24.						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)			AGGGATTCTTCATATACAATG	0.338000													18	51					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107177818	107177818	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:107177818G>C	ENST00000392837.4	+	2	279	c.128G>C	c.(127-129)aGa>aCa	p.R43T	RIC8B_ENST00000355478.2_5'UTR|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Missense_Mutation_p.R43T			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	43					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GAAGATAAAAGAAAGGTAAGC	0.343000													19	57					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9998560	9998560	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:9998560G>C	ENST00000506583.1	-	5	385	c.168C>G	c.(166-168)atC>atG	p.I56M	SLC2A9_ENST00000264784.3_Missense_Mutation_p.I85M|SLC2A9_ENST00000309065.3_Missense_Mutation_p.I56M			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	85					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AAAAGGCCTTGATGTACTGAA	0.433000													13	65					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73934520	73934520	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:73934520G>A	ENST00000276602.6	+	4	630	c.607G>A	c.(607-609)Gat>Aat	p.D203N	TERF1_ENST00000276603.5_Missense_Mutation_p.D203N	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	203	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AATATTTGGTGATCCAAATTC	0.303000													6	62					0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37371225	37371225	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:37371225C>G	ENST00000333461.5	-	6	1120	c.751G>C	c.(751-753)Gag>Cag	p.E251Q		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	251					intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGCCCCTCCTCAGAGCTGCGG	0.632000													17	201					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599540	116599540	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:116599540C>T	ENST00000395715.3	-	5	2965	c.2388G>A	c.(2386-2388)gaG>gaA	p.E796E	TRPS1_ENST00000520276.1_Silent_p.E787E|TRPS1_ENST00000220888.5_Silent_p.E783E|TRPS1_ENST00000519674.1_Silent_p.E783E|TRPS1_ENST00000519076.1_Silent_p.E537E	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	783	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|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)			CACTGGAACTCTCGGTCCAAA	0.542000									Langer-Giedion syndrome				5	238					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26976120	26976120	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:26976120C>G	ENST00000247020.4	-	3	821	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	175	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATGCACCTCTTTTTGCCCA	0.517000													25	82					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57003708	57003708	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:57003708G>A	ENST00000179765.5	-	11	2013	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S607L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S635L|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S637L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	637	MBD.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCCTCTGCTGAGAGCTGCAC	0.542000													7	6					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98419203	98419203	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:98419203G>C	ENST00000186436.5	-	23	2681	c.2453C>G	c.(2452-2454)tCa>tGa	p.S818*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	818						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGTGATTTTTGATATTATATT	0.338000													4	22					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031336	33031336	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:33031336G>A	ENST00000340811.4	-	3	586	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	PKP2_ENST00000070846.6_Missense_Mutation_p.H160Y	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	160					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGCGTGTAGTGAGCCCTCTCC	0.597000													18	149					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42857110	42857110	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:42857110C>A	ENST00000200557.6	+	27	2467	c.2298C>A	c.(2296-2298)tcC>tcA	p.S766S	ADAM11_ENST00000535346.1_Silent_p.S566S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	766					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTTCCAGGTCCGGAGGGGCCT	0.726000													8	48					1.12685e-05	1.17901e-05	1	1	0
NUPL2	11097	broad.mit.edu	37	7	23224848	23224848	+	Missense_Mutation	SNP	G	G	T	rs144835773		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:23224848G>T	ENST00000258742.5	+	2	540	c.281G>T	c.(280-282)gGc>gTc	p.G94V	NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Missense_Mutation_p.G94V	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	94	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGGAAGGAAGGCTTTGGATTG	0.408000													17	89					1.01871e-10	1.10299e-10	1	1	0
NIN	51199	broad.mit.edu	37	14	51190285	51190285	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:51190285C>A	ENST00000245441.5	-	31	6488	c.6298G>T	c.(6298-6300)Gag>Tag	p.E2100*	NIN_ENST00000389868.3_3'UTR|NIN_ENST00000530997.2_Nonsense_Mutation_p.E2100*	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1947					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTTTTCTTCTCTGCTGTTTTC	0.453000			T	PDGFRB	MPD								16	64					0.000422831	0.000432692	1	1	0
CLCN2	1181	broad.mit.edu	37	3	184075196	184075196	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:184075196G>A	ENST00000265593.4	-	8	1023	c.852C>T	c.(850-852)ttC>ttT	p.F284F	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Silent_p.F240F|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000457512.1_Silent_p.F284F|CLCN2_ENST00000344937.7_Silent_p.F284F	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	284						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGAAGGCACTGAAGGTGGCAG	0.637000													26	88					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94343253	94343253	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:94343253C>G	ENST00000436063.2	-	2	295	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GTAGATGGTTCAGTCCCCTTT	0.448000													3	39					0	0	1	0	0
RAB34	83871	broad.mit.edu	37	17	27042682	27042682	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:27042682G>C	ENST00000395245.3	-	5	982	c.356C>G	c.(355-357)tCa>tGa	p.S119*	RAB34_ENST00000395242.2_Nonsense_Mutation_p.S120*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.S119*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.S97*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.S176*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.S177*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.S119*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.S119*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.S119*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	119					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					ATAGTAGGTTGATGCAATGCA	0.542000													8	83					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195798971	195798971	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:195798971C>T	ENST00000360110.4	-	5	656	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	TFRC_ENST00000392396.3_Missense_Mutation_p.E163K|TFRC_ENST00000420415.1_Missense_Mutation_p.E82K|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000540528.1_3'UTR	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	163					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		GCAAGATTTTCATCTTTTTGA	0.348000			T	BCL6	NHL								30	52					0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3114785	3114785	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:3114785C>G	ENST00000263650.7	-	17	2077	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q	OSBPL5_ENST00000478260.1_Missense_Mutation_p.E94Q|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E572Q|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E572Q|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E551Q|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E271Q	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	640					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane 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)		GTCTGCTCCTCCAGCGGCACC	0.657000													13	46					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961333	99961333	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:99961333G>T	ENST00000297565.4	+	2	649	c.153G>T	c.(151-153)atG>atT	p.M51I	OSR2_ENST00000435298.2_Missense_Mutation_p.M51I|OSR2_ENST00000523368.1_Missense_Mutation_p.M51I|OSR2_ENST00000522510.1_Missense_Mutation_p.M51I|OSR2_ENST00000457907.2_Missense_Mutation_p.M172I	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	51					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			CCATGCACATGAACCACTGGA	0.642000													11	23					1.5842e-08	1.69072e-08	1	1	0
ACAN	176	broad.mit.edu	37	15	89400269	89400269	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:89400269G>C	ENST00000439576.2	+	12	4827	c.4453G>C	c.(4453-4455)Gag>Cag	p.E1485Q	ACAN_ENST00000561243.1_Missense_Mutation_p.E1485Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E1485Q|ACAN_ENST00000352105.7_Missense_Mutation_p.E1485Q	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1485					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)			CTCTGGAGTAGAGGACATCAG	0.498000													9	89					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225055	26225055	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:26225055C>A	ENST00000056233.3	+	4	1996	c.1737C>A	c.(1735-1737)atC>atA	p.I579I		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	579					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TCTCACTTATCCGTGACATCA	0.363000													7	76					2.0095e-06	2.12035e-06	1	1	0
TRIM45	80263	broad.mit.edu	37	1	117663630	117663630	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:117663630C>T	ENST00000256649.4	-	1	720	c.194G>A	c.(193-195)cGa>cAa	p.R65Q	TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Missense_Mutation_p.R65Q	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	65						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTCTCCCCCTCGGATGTCCAC	0.537000													21	45					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26706500	26706500	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:26706500C>T	ENST00000272371.2	-	13	1348	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	OTOF_ENST00000403946.3_Missense_Mutation_p.E408K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACCCCCTCGGGGAGCAGC	0.607000													4	34					0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79632907	79632907	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:79632907T>G	ENST00000393350.1	-	1	1704	c.893A>C	c.(892-894)aAc>aCc	p.N298T	MAF_ENST00000326043.4_Missense_Mutation_p.N298T|MAF_ENST00000569649.1_Missense_Mutation_p.N298T	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	298	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATAGCCGCGGTTTTTCAGGGT	0.622000			T	IGH@	MM								3	40					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135085413	135085413	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:135085413C>T	ENST00000445355.3	-	11	1053	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	ADAM8_ENST00000485491.2_Missense_Mutation_p.E296K|ADAM8_ENST00000415217.3_Missense_Mutation_p.E335K	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	296					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TGGCCCATCTCATGGGCCATG	0.647000													12	83					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97944873	97944873	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:97944873C>T	ENST00000005260.8	-	7	753	c.538G>A	c.(538-540)Gat>Aat	p.D180N	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	180	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TTGCAACCATCTGCAATGAAT	0.353000													51	157					0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122743702	122743702	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:122743702C>T	ENST00000274026.5	-	2	616	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	105					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TTTTCTGCTTCATCCACATGA	0.453000													17	163					0	0	1	0	0
HIAT1	64645	broad.mit.edu	37	1	100534136	100534136	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:100534136C>G	ENST00000370152.3	+	7	949	c.813C>G	c.(811-813)ctC>ctG	p.L271L	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	271					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTTTATACCTCAGACAGGTAA	0.393000													11	72					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59611386	59611386	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:59611386G>C	ENST00000541311.1	-	2	381	c.147C>G	c.(145-147)ctC>ctG	p.L49L	GIF_ENST00000257248.2_Silent_p.L74L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	74					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAAGTCAGGAGCTTCTGGG	0.532000													4	41					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50027715	50027715	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:50027715C>G	ENST00000261897.1	+	9	1119	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	PRPF40B_ENST00000380281.1_Missense_Mutation_p.Q196E|PRPF40B_ENST00000548825.2_Missense_Mutation_p.Q218E			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	196					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACAGCCACCTCAGCCACAGCC	0.612000													8	73					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24239086	24239086	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:24239086G>A	ENST00000338315.4	+	3	283	c.283G>A	c.(283-285)Gac>Aac	p.D95N	MFSD2B_ENST00000406420.3_Missense_Mutation_p.D95N			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	95					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GGCGGCTGCTGACCCTGTGGC	0.597000													12	58					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2968775	2968775	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:2968775C>G	ENST00000342628.2	-	10	1548	c.1435G>C	c.(1435-1437)Gag>Cag	p.E479Q	FOXM1_ENST00000359843.3_Missense_Mutation_p.E441Q|ITFG2_ENST00000545509.1_3'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.E426Q	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	441					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGTTTCTCCTCTTTCCCTGGT	0.507000													5	38					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123780661	123780661	+	Splice_Site	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:123780661C>T	ENST00000422452.2	-	9	1643		c.e9-1		TENM1_ENST00000371130.3_Splice_Site	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCCATTATTTCTAGTAATACA	0.378000													10	7					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31487760	31487760	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:31487760G>A	ENST00000333137.7	+	11	1777	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	SMTN_ENST00000347557.2_Missense_Mutation_p.R520Q|SMTN_ENST00000358743.1_Missense_Mutation_p.R520Q	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	520					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACCCTGGCTCGGCTGGGCAGT	0.662000													3	9					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153599	101153599	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:101153599C>G	ENST00000428847.2	-	2	1199	c.883G>C	c.(883-885)Gat>Cat	p.D295H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	295					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATGTCCTCATCTGTTCCACAA	0.403000													6	40					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25883287	25883287	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:25883287G>C	ENST00000376351.3	+	9	2318	c.1959G>C	c.(1957-1959)ttG>ttC	p.L653F	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	653						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATACTCATTTGACTGTGACAG	0.328000													11	86					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305480	43305480	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:43305480C>G	ENST00000361428.2	-	10	6333	c.6256G>C	c.(6256-6258)Gag>Cag	p.E2086Q	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2086					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)			CGTTCACCCTCTGTCTCAAAG	0.473000													9	61					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55518080	55518080	+	Missense_Mutation	SNP	G	G	C	rs35605815		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:55518080G>C	ENST00000302118.5	+	4	943	c.653G>C	c.(652-654)aGa>aCa	p.R218T	PCSK9_ENST00000452118.2_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.R18T|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	218	Peptidase S8.		R -> S (in FH3).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGCTTCCACAGACAGGTAAGC	0.622000													6	26					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79284034	79284034	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:79284034C>G	ENST00000419573.3	-	22	3452	c.3178G>C	c.(3178-3180)Gag>Cag	p.E1060Q	RASGRF1_ENST00000394745.3_Splice_Site_p.E276Q|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Splice_Site_p.E1044Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1062	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AACACTTACTCATAAGGAATC	0.572000													8	55					0	0	1	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591875	27591875	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:27591875G>C	ENST00000493344.2	-	3	791	c.479C>G	c.(478-480)tCa>tGa	p.S160*	EIF2B4_ENST00000347454.4_Nonsense_Mutation_p.S139*|EIF2B4_ENST00000445933.2_Nonsense_Mutation_p.S138*|EIF2B4_ENST00000451130.2_Nonsense_Mutation_p.S159*			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	139					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGATACCTGAGGGGGTTTC	0.547000													11	57					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911868	32911868	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:32911868G>A	ENST00000544455.1	+	11	3603	c.3376G>A	c.(3376-3378)Gaa>Aaa	p.E1126K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1126K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1126					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGTCAGTTTGAATTTACTCA	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	31					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377670	124377670	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:124377670A>T	ENST00000338354.3	+	38	4748	c.4642A>T	c.(4642-4644)Agg>Tgg	p.R1548W	DMBT1_ENST00000359586.6_Missense_Mutation_p.R399W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R920W|DMBT1_ENST00000368956.2_Missense_Mutation_p.R920W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1548W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1538W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1538W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1548	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGTGGTCTGCAGGCAGCTGGG	0.607000													4	300					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26450339	26450339	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:26450339G>T	ENST00000244519.2	+	10	1239	c.996G>T	c.(994-996)tgG>tgT	p.W332C	BTN3A3_ENST00000339789.4_Missense_Mutation_p.W290C|BTN3A3_ENST00000361232.3_Missense_Mutation_p.W283C	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	332	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TTTCAGAATGGAAAATGGCCC	0.408000													9	102					9.70103e-10	1.0458e-09	1	1	0
ARNTL2	56938	broad.mit.edu	37	12	27554500	27554500	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:27554500C>G	ENST00000544915.1	+	11	1428	c.1209C>G	c.(1207-1209)ttC>ttG	p.F403L	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.F389L|ARNTL2_ENST00000311001.5_Missense_Mutation_p.F423L|ARNTL2_ENST00000266503.5_Missense_Mutation_p.F437L|ARNTL2_ENST00000395901.2_Missense_Mutation_p.F400L|ARNTL2_ENST00000542388.1_Missense_Mutation_p.F352L|ARNTL2_ENST00000546179.1_Missense_Mutation_p.F400L	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	437	PAS 2.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CCTACAAATTCAGAGCAAAAG	0.303000													8	113					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261157	160261157	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:160261157C>G	ENST00000241704.7	-	31	3617	c.3388G>C	c.(3388-3390)Gaa>Caa	p.E1130Q	COPA_ENST00000368069.3_Missense_Mutation_p.E1139Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1130					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCCCGAGTTCTAGTAGGCGC	0.552000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	142					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676788	56676788	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:56676788G>C	ENST00000389934.3	-	14	2035	c.1918C>G	c.(1918-1920)Cca>Gca	p.P640A	TEX14_ENST00000349033.5_Missense_Mutation_p.P640A|TEX14_ENST00000240361.8_Missense_Mutation_p.P646A	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	646						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGCTCCTGGAGGCTCTTCT	0.512000													17	81					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112147466	112147466	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:112147466G>C	ENST00000455480.2	+	5	845	c.668G>C	c.(667-669)aGa>aCa	p.R223T	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.R223T|ACAD10_ENST00000549590.1_Missense_Mutation_p.R223T|ACAD10_ENST00000413681.3_3'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	223							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GAAGCTGCCAGACTTGGTATT	0.438000													24	44					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13841170	13841170	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:13841170C>T	ENST00000265104.4	-	34	5658	c.5554G>A	c.(5554-5556)Gat>Aat	p.D1852N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1852	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTTTTTATCAAACTTGGCA	0.388000									Kartagener syndrome				16	70					0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427282	97427282	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:97427282C>G	ENST00000377075.2	+	1	644	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	182					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTGCCTCTCTGGCTGCACA	0.622000													43	244					0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512171	125512171	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:125512171C>G	ENST00000373684.1	+	1	153	c.153C>G	c.(151-153)ctC>ctG	p.L51L	OR1L6_ENST00000304720.2_Silent_p.L15L			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GCTTCATCCTCCTGGGCCTCT	0.537000													24	114					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85128145	85128145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:85128145C>A	ENST00000437941.2	-	6	1013	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	SSX2IP_ENST00000605755.1_Nonsense_Mutation_p.E221*|SSX2IP_ENST00000370612.4_Nonsense_Mutation_p.E248*|SSX2IP_ENST00000342203.3_Nonsense_Mutation_p.E248*|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	248					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCTGGCTTCAGTTTTACCA	0.358000													15	68					1.3612e-06	1.43833e-06	1	1	0
PFDN2	5202	broad.mit.edu	37	1	161087747	161087747	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:161087747C>G	ENST00000368010.3	-	1	154	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	24					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTCACCTGCTCTGCGGACACC	0.682000													13	86					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739966	205739966	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:205739966C>G	ENST00000367139.3	-	5	698	c.395G>C	c.(394-396)tGg>tCg	p.W132S	RAB7L1_ENST00000446390.2_Missense_Mutation_p.W108S|RAB7L1_ENST00000468887.1_5'UTR|RAB7L1_ENST00000437324.2_Missense_Mutation_p.W60S|RAB7L1_ENST00000235932.4_Missense_Mutation_p.W132S|RAB7L1_ENST00000414729.1_Missense_Mutation_p.W132S	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	132					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCTCACTGCCCAAGGGGACAG	0.408000													4	43					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344287	118344287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:118344287C>T	ENST00000534358.1	+	3	2436	c.2413C>T	c.(2413-2415)Cag>Tag	p.Q805*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Q805*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Q805*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTCCCTGACTCAGTCTGGGGA	0.478000													49	60					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786126	112786126	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:112786126G>C	ENST00000295408.4	+	19	2942	c.2685G>C	c.(2683-2685)ttG>ttC	p.L895F	MERTK_ENST00000421804.2_Missense_Mutation_p.L895F|MERTK_ENST00000409780.1_Missense_Mutation_p.L719F			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	895					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACTGGACTTGAACATCGACC	0.547000													15	86					0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7216891	7216891	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:7216891G>A	ENST00000380728.2	-	7	930	c.630C>T	c.(628-630)ctC>ctT	p.L210L	GPS2_ENST00000391950.3_Silent_p.L210L|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Silent_p.L210L			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	210					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ACTCACCTCTGAGCTGCTGAC	0.512000											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	43					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78880748	78880748	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:78880748C>T	ENST00000286627.5	-	6	1819	c.867G>A	c.(865-867)ctG>ctA	p.L289L	KCNMA1_ENST00000372440.1_Silent_p.L289L|KCNMA1_ENST00000406533.3_Silent_p.L289L|KCNMA1_ENST00000404771.3_Silent_p.L289L|KCNMA1_ENST00000404857.1_Silent_p.L289L|KCNMA1_ENST00000286628.8_Silent_p.L289L|KCNMA1_ENST00000372443.1_Silent_p.L289L|KCNMA1_ENST00000354353.5_Silent_p.L289L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	289					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAAGAATATTCAGAAACTGCA	0.333000													7	35					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21596525	21596525	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:21596525G>C	ENST00000298925.5	+	21	2627	c.2474G>C	c.(2473-2475)aGa>aCa	p.R825T	NELL1_ENST00000532434.1_Missense_Mutation_p.R750T|NELL1_ENST00000357134.5_Missense_Mutation_p.R797T|NELL1_ENST00000325319.5_Missense_Mutation_p.R740T|NELL1_ENST00000529218.1_3'UTR			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	797					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAGAATGGAAGAGTCTGTTGT	0.353000													3	33					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101068556	101068556	+	Silent	SNP	G	G	A	rs141903124		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:101068556G>A	ENST00000259455.2	-	15	2535	c.2076C>T	c.(2074-2076)atC>atT	p.I692I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	692					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CACTCATCCCGATGTACTTGC	0.552000													9	12					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141561521	141561521	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:141561521C>T	ENST00000220592.5	-	11	1396	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	AGO2_ENST00000519980.1_Silent_p.A428A	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGACAGGGGTCGCAATAGCTT	0.517000													17	97					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105026816	105026816	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:105026816C>T	ENST00000507740.1	+	17	2985	c.2749C>T	c.(2749-2751)Ctt>Ttt	p.L917F	RIMS2_ENST00000436393.2_Missense_Mutation_p.L843F|RIMS2_ENST00000406091.3_Missense_Mutation_p.L1103F|RIMS2_ENST00000262231.10_Missense_Mutation_p.L942F	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1165					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase 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)			GCTTCCACAGCTTCCACCAAA	0.438000										HNSCC(12;0.0054)			13	43					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458439	248458439	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:248458439G>C	ENST00000317996.1	-	1	441	c.442C>G	c.(442-444)Ctc>Gtc	p.L148V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCACCCAGGAGCCAGGACGAC	0.607000													7	52					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179870457	179870457	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:179870457C>G	ENST00000606911.2	+	5	864	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.Q226E|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.Q226E|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.Q104E			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGAAGATGATCAAGACAGCTC	0.338000													10	61					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672107	151672107	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:151672107G>C	ENST00000402676.2	+	4	2821	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.E756Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E763Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.E861Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	861					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGAGAAAATGGAGGCACAGCA	0.562000													10	57					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25976422	25976422	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:25976422C>T	ENST00000435504.4	-	11	1416	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	ASXL2_ENST00000404843.1_Missense_Mutation_p.E115K|ASXL2_ENST00000336112.4_Missense_Mutation_p.E347K|ASXL2_ENST00000272341.4_Missense_Mutation_p.E115K			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGTAGCTTTCAAAGAATTGT	0.383000													26	74					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29095921	29095921	+	RNA	SNP	C	C	T	rs78029162		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:29095921C>T	ENST00000582557.1	+	0	1220																											TGACCTCAATCAAACAAAACC	0.383000													8	31					0	0	1	0	0
WDR46	9277	broad.mit.edu	37	6	33255195	33255195	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:33255195G>C	ENST00000374617.4	-	8	1172	c.816C>G	c.(814-816)atC>atG	p.I272M		NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	272										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						CACAGCGGCGGATACAGTGGA	0.567000													12	37					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828763	59828763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:59828763C>T	ENST00000278865.3	+	2	203	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Nonsense_Mutation_p.Q44*|MS4A3_ENST00000534744.1_Nonsense_Mutation_p.Q44*|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	44						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACCAGATTATCAGAAAGCAAA	0.463000													10	78					0	0	1	0	0
UCHL3	7347	broad.mit.edu	37	13	76140943	76140943	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:76140943G>C	ENST00000377595.3	+	4	326	c.296G>C	c.(295-297)gGa>gCa	p.G99A	RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	99					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GGAACAATTGGACTGATTCAT	0.333000													15	50					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865711	118865711	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:118865711G>A	ENST00000295622.1	+	1	715	c.675G>A	c.(673-675)caG>caA	p.Q225Q		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	225										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCTGTGCAGATTGACAGTG	0.488000													14	57					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77484139	77484139	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:77484139C>G	ENST00000248550.7	+	2	211	c.135C>G	c.(133-135)ttC>ttG	p.F45L	PHTF2_ENST00000307305.8_Intron|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000424760.1_Intron|PHTF2_ENST00000422959.2_Intron|PHTF2_ENST00000416283.2_Intron|PHTF2_ENST00000415251.2_Intron|PHTF2_ENST00000450574.1_Intron			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						aagggctcttcattcagtgtt	0.567000													4	14					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152321102	152321102	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:152321102G>C	ENST00000243326.5	+	29	5551	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H	RIF1_ENST00000428287.2_Missense_Mutation_p.D1690H|RIF1_ENST00000453091.2_Missense_Mutation_p.D1690H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1690H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1690H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						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)		AGACTCTTTTGATAATTGTAG	0.343000													6	26					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20056136	20056136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:20056136C>G	ENST00000245957.5	+	6	519	c.443C>G	c.(442-444)tCa>tGa	p.S148*	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.S148*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.S148*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	148										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)		GATTTAGGCTCAACTCTCATA	0.378000													11	125					0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858268	159858268	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:159858268G>A	ENST00000426543.2	-	4	491	c.36C>T	c.(34-36)ccC>ccT	p.P12P	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Silent_p.P97P			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	97						mitochondrion|soluble fraction		p.P97P(1)		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)			ACTCCCCGGAGGGATCCTCTG	0.547000													4	87					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554233	41554233	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:41554233G>A	ENST00000396942.1	-	25	2779	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	ANK1_ENST00000289734.7_Missense_Mutation_p.S899L|ANK1_ENST00000347528.4_Missense_Mutation_p.S899L|ANK1_ENST00000265709.8_Missense_Mutation_p.S940L|ANK1_ENST00000396945.1_Missense_Mutation_p.S899L|ANK1_ENST00000352337.4_Missense_Mutation_p.S899L|ANK1_ENST00000379758.2_Missense_Mutation_p.S899L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	899					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)			GATGTTGTCTGAGGTCTCGGT	0.637000													4	22					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915696	202915696	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:202915696G>A	ENST00000340990.5	-	4	599	c.301C>T	c.(301-303)Cct>Tct	p.P101S	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.P101S|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.P101S	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	101					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCAGTCAGGGAGCACATCA	0.502000													7	50					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155153084	155153084	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:155153084G>A	ENST00000367178.3	+	20	2947	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	SCAF8_ENST00000367186.4_Missense_Mutation_p.D857N|SCAF8_ENST00000417268.1_Missense_Mutation_p.D791N	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	791	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme 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						GATTCCAAATGATATTTCAAG	0.343000													9	40					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11617116	11617116	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:11617116G>A	ENST00000270517.7	-	8	1314	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000591104.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000417981.2_Silent_p.L179L|ECSIT_ENST00000592312.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	393					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TGGACCCGGCGAGGCGGAAGA	0.672000													5	33					0	0	1	0	0
RCAN1	1827	broad.mit.edu	37	21	35890486	35890486	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr21:35890486C>T	ENST00000481448.1	-	5	1111	c.625G>A	c.(625-627)Gat>Aat	p.D209N	RCAN1_ENST00000487990.1_Missense_Mutation_p.D84N|RCAN1_ENST00000313806.4_Missense_Mutation_p.D219N|RCAN1_ENST00000381132.2_Missense_Mutation_p.D164N|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000381135.3_Missense_Mutation_p.D209N|RCAN1_ENST00000482533.1_Missense_Mutation_p.D84N|RCAN1_ENST00000399272.1_Missense_Mutation_p.D138N|RCAN1_ENST00000443408.2_Missense_Mutation_p.D84N			P53805	RCAN1_HUMAN	regulator of calcineurin 1	219					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						TTCTCTTGATCACTCTCACAT	0.502000													12	83					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130501076	130501076	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:130501076G>A	ENST00000314830.8	-	12	2645	c.2532C>T	c.(2530-2532)ctC>ctT	p.L844L	SH2D3C_ENST00000420366.1_Silent_p.L686L|SH2D3C_ENST00000373277.4_Silent_p.L687L|SH2D3C_ENST00000373276.3_Silent_p.L776L|SH2D3C_ENST00000373274.3_Silent_p.L684L|SH2D3C_ENST00000429553.1_Silent_p.L490L	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	844	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAGGGCAGTGAGGACCTTGT	0.637000													3	13					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45362455	45362455	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:45362455G>A	ENST00000359271.2	+	5	1858	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	536						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GCCGCATCGAGATCTCTGCGG	0.587000													5	47					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16475372	16475372	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:16475372G>C	ENST00000334133.4	-	3	590	c.318C>G	c.(316-318)atC>atG	p.I106M	RFTN1_ENST00000432519.1_Missense_Mutation_p.I70M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	106						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGGTTTTCTTGATCAGGATGG	0.587000													26	254					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327359	88327359	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:88327359C>G	ENST00000347055.3	-	4	1117	c.724G>C	c.(724-726)Ggc>Cgc	p.G242R		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	242										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CTTTCTTGGCCTTGTTCCTTT	0.378000													22	134					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43869301	43869301	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:43869301C>T	ENST00000562955.1	+	3	183	c.183C>T	c.(181-183)ctC>ctT	p.L61L	SZT2_ENST00000372450.4_Silent_p.L59L|SZT2_ENST00000310739.4_Silent_p.L61L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	61						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						TGGAAGTCCTCAGTGTCCTGC	0.532000													10	46					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50683246	50683246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:50683246C>T	ENST00000008391.3	+	2	685	c.457C>T	c.(457-459)Cag>Tag	p.Q153*		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	153							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCATGGCTCTCAGTATGGAAT	0.642000													10	98					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93624597	93624597	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:93624597G>C	ENST00000375754.4	+	4	836	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	SYK_ENST00000375751.4_Missense_Mutation_p.E230Q|SYK_ENST00000375747.1_Missense_Mutation_p.E230Q|SYK_ENST00000375746.1_Missense_Mutation_p.E230Q	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	230	SH2 2.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CTCCATCCCCGAGGGAAAGAA	0.592000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								6	17					0	0	1	0	0
COG6	57511	broad.mit.edu	37	13	40254132	40254132	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:40254132T>C	ENST00000416691.1	+	7	744	c.644T>C	c.(643-645)aTg>aCg	p.M215T	COG6_ENST00000455146.3_Missense_Mutation_p.M215T|COG6_ENST00000465775.1_3'UTR	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	215					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATGGAACAGATGGCCTTACTT	0.284000													11	40					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41916676	41916676	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:41916676C>G	ENST00000269980.2	+	2	611	c.243C>G	c.(241-243)gtC>gtG	p.V81V	CTC-435M10.3_ENST00000540732.1_Silent_p.V115V|CTC-435M10.3_ENST00000604424.1_3'UTR|BCKDHA_ENST00000595085.1_Silent_p.V115V|BCKDHA_ENST00000457836.2_Silent_p.V59V	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	81					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						TCTACCGCGTCATGGACCGGC	0.627000													7	97					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474033	179474033	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:179474033C>T	ENST00000589042.1	-	273	52228	c.52004G>A	c.(52003-52005)cGc>cAc	p.R17335H	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15694H|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8270H|TTN_ENST00000342992.6_Missense_Mutation_p.R14767H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8395H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R8462H|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15694	Fibronectin type-III 25.						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)			ATCTCGGACGCGTAGCTGAGA	0.453000													7	35					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380057	56380057	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:56380057T>G	ENST00000526538.1	-	1	921	c.922A>C	c.(922-924)Aaa>Caa	p.K308Q		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TGAAAGGATTTTCCCCTAATC	0.378000													20	87					0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65152159	65152159	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:65152159G>A	ENST00000323544.4	+	4	474	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	AC069368.3_ENST00000437723.1_Missense_Mutation_p.E116K	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	116	PH.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGCCCTCAATGAAGGGATTAA	0.527000													13	80					0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41231656	41231656	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:41231656C>A	ENST00000216218.3	-	7	967	c.486G>T	c.(484-486)caG>caT	p.Q162H		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	162							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CATTTGGCTTCTGTAATTTGA	0.378000													43	97					1.22674e-20	1.34978e-20	1	1	0
POLR1C	9533	broad.mit.edu	37	6	43488746	43488746	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:43488746G>C	ENST00000372389.3	+	8	970	c.882G>C	c.(880-882)aaG>aaC	p.K294N	POLR1C_ENST00000304004.3_Missense_Mutation_p.K294N|POLR1C_ENST00000372344.2_Missense_Mutation_p.K244N	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	294					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AGAAGCTAAAGAAGGTTGTGA	0.483000													16	59					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117663586	117663586	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:117663586C>T	ENST00000256649.4	-	1	764	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TRIM45_ENST00000369461.3_Splice_Site_p.E23K|TRIM45_ENST00000369464.3_Missense_Mutation_p.E80K	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	80						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GGCTTGAGTTCCTGGAATATT	0.542000													24	45					0	0	1	0	0
GNRH1	2796	broad.mit.edu	37	8	25279185	25279185	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:25279185C>G	ENST00000276414.4	-	2	1465		c.e2-1		GNRH1_ENST00000421054.2_Splice_Site	NM_000825.3	NP_000816.4	P01148	GON1_HUMAN	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)						cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CTTTGACTATCTGAAGAAAGA	0.473000													3	6					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50550281	50550281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:50550281C>T	ENST00000595661.1	+	6	3076	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q861*|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q861*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q849*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	861					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGCCGCCATCAGCGTGTACA	0.517000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433374	228433374	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:228433374C>G	ENST00000570156.2	+	13	4092	c.4018C>G	c.(4018-4020)Caa>Gaa	p.Q1340E	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q1248E|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1248E|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	324	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTCTCCTTTCAACTGCACAT	0.532000													22	65					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993194	52993194	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:52993194G>C	ENST00000575882.1	+	7	1044	c.691G>C	c.(691-693)Gaa>Caa	p.E231Q	TOM1L1_ENST00000570371.1_Missense_Mutation_p.E231Q|TOM1L1_ENST00000445275.2_Missense_Mutation_p.E231Q|TOM1L1_ENST00000540336.1_Missense_Mutation_p.E119Q|TOM1L1_ENST00000536554.1_Missense_Mutation_p.E154Q|TOM1L1_ENST00000575333.1_Missense_Mutation_p.E231Q|TOM1L1_ENST00000348161.4_Missense_Mutation_p.E154Q|TOM1L1_ENST00000572158.1_Missense_Mutation_p.E224Q|TOM1L1_ENST00000572405.1_Missense_Mutation_p.E196Q	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	231	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCCTGGGTCTGAAAACCATGA	0.408000													12	70					0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6256100	6256100	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:6256100C>A	ENST00000381434.3	+	7	758	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	IL33_ENST00000456383.2_Missense_Mutation_p.L207M|IL33_ENST00000417746.2_Missense_Mutation_p.L123M	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	249					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TCATCTTGCTCTGATTAAAGT	0.373000													20	33					3.8784e-16	4.25484e-16	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38753898	38753898	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:38753898G>C	ENST00000449082.2	-	22	3842	c.3843C>G	c.(3841-3843)atC>atG	p.I1281M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1281					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)	GGACATTCATGATGGATGGGA	0.552000													7	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457718	179457718	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:179457718T>C	ENST00000589042.1	-	300	59352	c.59128A>G	c.(59128-59130)Agc>Ggc	p.S19710G	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S18069G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10645G|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17142G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10770G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S10837G|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18069	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S10645G(1)|p.S17140G(1)|p.S10770G(1)|p.S10837G(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)			AGAATCTTGCTCCCACCATCA	0.418000													19	115					0	0	1	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326931	89326931	+	RNA	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:89326931G>A	ENST00000483158.1	-	0	128																											AGGGTGGCTGGAGACTGTGTC	0.473000													11	75					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031080	79031080	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:79031080G>A	ENST00000446378.2	+	2	6523	c.6492G>A	c.(6490-6492)ccG>ccA	p.P2164P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2164						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGCTAAGCCGGACCTTCCTG	0.458000													4	46					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48584684	48584684	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:48584684C>G	ENST00000537810.1	-	20	2420	c.1816G>C	c.(1816-1818)Gat>Cat	p.D606H	FRYL_ENST00000358350.4_Missense_Mutation_p.D606H|FRYL_ENST00000507711.1_Missense_Mutation_p.D606H|FRYL_ENST00000506685.1_Missense_Mutation_p.D312H|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.D606H			O94915	FRYL_HUMAN	FRY-like	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTGGAAAATCAAGCATTAGT	0.403000													17	51					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99661724	99661724	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:99661724G>A	ENST00000543588.1	+	6	1047	c.803G>A	c.(802-804)aGa>aAa	p.R268K	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R268K|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000292450.4_Silent_p.E302E			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	0					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACTGGGGAGAAACCTTACG	0.488000													8	37					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28473531	28473531	+	Missense_Mutation	SNP	C	C	G	rs35394555	by1000genomes	TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:28473531C>G	ENST00000361902.1	-	4	457	c.408G>C	c.(406-408)gaG>gaC	p.E136D	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	136			E -> D (in dbSNP:rs35394555).		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)	CATCCCCTTTCTCAAAGAGCT	0.443000													6	72					0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19184869	19184869	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:19184869C>G	ENST00000446113.2	+	11	1249	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.F246L	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	376	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAGCCCCTTTCTATTTCAGTT	0.348000													10	60					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:98422018G>C	ENST00000186436.5	-	20	2432	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358000													44	138					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58120491	58120491	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:58120491C>T	ENST00000357272.4	+	27	4828	c.4663C>T	c.(4663-4665)Caa>Taa	p.Q1555*	FLNB_ENST00000358537.3_Nonsense_Mutation_p.Q1555*|FLNB_ENST00000490882.1_Nonsense_Mutation_p.Q1586*|FLNB_ENST00000493452.1_Nonsense_Mutation_p.Q1386*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.Q1555*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.Q1555*|FLNB_ENST00000419752.2_Nonsense_Mutation_p.Q1386*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.Q1555*			O75369	FLNB_HUMAN	filamin B, beta	1555					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)		GCTTGCTGTTCAAATAACGGT	0.473000													23	76					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675691	54675691	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:54675691G>C	ENST00000546500.1	+	3	860	c.245G>C	c.(244-246)aGa>aCa	p.R82T	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R82T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R82T|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R82T			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	82	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTGGATGGAAGAGTTGTGGAA	0.468000													24	71					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006203	43006203	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:43006203G>C	ENST00000535468.1	-	25	4913	c.4827C>G	c.(4825-4827)ctC>ctG	p.L1609L	CUL7_ENST00000265348.3_Silent_p.L1525L	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1525					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCGAATCTTGAGGACCCCTG	0.582000													19	37					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62189111	62189111	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:62189111G>C	ENST00000474889.1	+	12	2019	c.1642G>C	c.(1642-1644)Gcg>Ccg	p.A548P	PTPRG_ENST00000295874.10_Missense_Mutation_p.A548P	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	548					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCAAGCAGGCGGCTAGGCC	0.682000													3	7					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32955354	32955354	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:32955354G>A	ENST00000340811.4	-	10	2258	c.2150C>T	c.(2149-2151)tCt>tTt	p.S717F	PKP2_ENST00000070846.6_Missense_Mutation_p.S761F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	761					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATTCTGCAGAGAAAGATTCCG	0.448000													18	156					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46962075	46962075	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:46962075G>C	ENST00000374323.4	-	7	1907	c.1320C>G	c.(1318-1320)taC>taG	p.Y440*	SYT15_ENST00000374325.3_Intron|SYT15_ENST00000374321.4_Nonsense_Mutation_p.Y387*|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGGTGTACATGTAGGGGCCCA	0.672000													10	58					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1032267	1032267	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:1032267G>A	ENST00000296849.5	+	4	371	c.142G>A	c.(142-144)Gag>Aag	p.E48K	NKD2_ENST00000537972.1_Splice_Site_p.E48K|NKD2_ENST00000274150.4_Splice_Site_p.E48K	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	48	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTTCCTGCAGGAGCTGCCCAA	0.667000													10	102					0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213557	84213557	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:84213557G>A	ENST00000567759.1	-	13	1876	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	TAF1C_ENST00000566732.1_Missense_Mutation_p.T539I|TAF1C_ENST00000570117.1_Missense_Mutation_p.T233I|TAF1C_ENST00000341690.6_Missense_Mutation_p.T471I|TAF1C_ENST00000541676.1_Missense_Mutation_p.T472I|TAF1C_ENST00000378541.4_Missense_Mutation_p.T565I	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	565					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CACACCTATGGTCGGTGCTTT	0.632000													4	28					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484128	152484128	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:152484128T>A	ENST00000334269.2	+	2	294	c.118T>A	c.(118-120)Tgt>Agt	p.C40S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	40	Cys-rich.		C -> Y (in dbSNP:rs2105117).		keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCCCCAGTGTTCAGCCCC	0.612000													8	68					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10785069	10785069	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:10785069G>A	ENST00000361367.2	+	8	1367	c.941G>A	c.(940-942)aGa>aAa	p.R314K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	314					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGCTAGCTAGATCATTCCAT	0.353000													3	38					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97617757	97617757	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:97617757G>C	ENST00000182096.4	+	10	1952	c.1888G>C	c.(1888-1890)Gaa>Caa	p.E630Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CACACTATTTGAATCTGACCT	0.318000													16	37					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													6	410					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911181	32911181	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:32911181G>A	ENST00000544455.1	+	11	2916	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E897K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	897	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTAGCTAATGAAAGGAATAA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	53					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													12	40					0	0	1	0	0
GIP	2695	broad.mit.edu	37	17	47041673	47041673	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:47041673C>G	ENST00000357424.2	-	3	356	c.256G>C	c.(256-258)Gac>Cac	p.D86H		NM_004123.2	NP_004114.1	P09681	GIP_HUMAN	gastric inhibitory polypeptide	86					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						GCGACTCACTCATTCTTCTTC	0.552000													16	99					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914488	145914488	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:145914488C>T	ENST00000354952.2	-	7	957	c.717G>A	c.(715-717)aaG>aaA	p.K239K	PLSCR4_ENST00000433593.2_Silent_p.K134K|PLSCR4_ENST00000383083.2_Silent_p.K149K|PLSCR4_ENST00000446574.2_Silent_p.K239K|PLSCR4_ENST00000493382.1_Silent_p.K239K	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	239					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CATTTTCTTTCTTCTCATTTT	0.458000													23	86					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690290	49690290	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:49690290G>C	ENST00000296452.4	+	5	3415	c.3301G>C	c.(3301-3303)Gag>Cag	p.E1101Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1101					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)		GTCACCCATCGAGGATGCCTC	0.662000													20	54					0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574583	169574583	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:169574583G>C	ENST00000316428.5	-	4	622	c.565C>G	c.(565-567)Ctg>Gtg	p.L189V	LRRC31_ENST00000523069.1_Missense_Mutation_p.L189V|LRRC31_ENST00000264676.5_Missense_Mutation_p.L133V|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	189										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)			TGAAGGATCAGAGGCAAATTT	0.418000													28	105					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69942718	69942718	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:69942718C>G	ENST00000359154.2	+	9	1070	c.969C>G	c.(967-969)acC>acG	p.T323T	WWP2_ENST00000569174.1_Silent_p.T323T|WWP2_ENST00000542271.1_Silent_p.T207T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.T323T|WWP2_ENST00000356003.2_Silent_p.T323T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	323	WW 1.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCACAATACCAAGACCACCA	0.517000													14	45					0	0	1	0	0
ART1	417	broad.mit.edu	37	11	3681334	3681334	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:3681334G>A	ENST00000250693.1	+	3	686	c.585G>A	c.(583-585)gtG>gtA	p.V195V		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	195					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGGCCACCGTGAGGCTGGGGG	0.682000													4	9					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876084	35876084	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:35876084G>A	ENST00000303115.3	+	8	1005		c.e8-1		IL7R_ENST00000343305.4_Splice_Site	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor						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)			TTTCTGTGCAGAATTTAAATG	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	57					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206822133	206822133	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:206822133C>G	ENST00000367106.1	+	4	2003	c.1530C>G	c.(1528-1530)ctC>ctG	p.L510L	DYRK3_ENST00000367109.2_Silent_p.L530L|DYRK3_ENST00000367108.3_Silent_p.L510L|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	530	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCAGACCTCTCACCACCATAG	0.507000													6	42					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498766	142498766	+	RNA	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:142498766G>C	ENST00000466254.1	+	0	42																											CGCTGTGTTTGAGCCATCAGA	0.572000													6	85					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704057	47704057	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr21:47704057G>C	ENST00000397708.1	-	2	1398	c.1144C>G	c.(1144-1146)Cag>Gag	p.Q382E	MCM3AP_ENST00000291688.1_Missense_Mutation_p.Q382E			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	382					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGGACAGACTGATTCCCTCCT	0.468000													13	128					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62417402	62417402	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:62417402G>C	ENST00000330574.2	-	2	202	c.150C>G	c.(148-150)ctC>ctG	p.L50L	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	50					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCCGGGCTGAGAGTTGGTGGC	0.532000													8	56					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185198087	185198087	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:185198087G>C	ENST00000265026.3	+	13	2903	c.2569G>C	c.(2569-2571)Gat>Cat	p.D857H	MAP3K13_ENST00000443863.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D713H|MAP3K13_ENST00000446828.1_Missense_Mutation_p.D650H|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D857H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	857					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			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)			CTCTGTGTCTGATGGAGAAGA	0.473000													36	69					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47703702	47703702	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr21:47703702C>T	ENST00000397708.1	-	3	1524	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	MCM3AP_ENST00000291688.1_Missense_Mutation_p.D424N			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	424					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCAAGACTGTCTGTGCTCTCG	0.498000													18	112					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29240070	29240070	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:29240070G>C	ENST00000379558.4	+	9	1446	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	FAM179A_ENST00000403861.2_Missense_Mutation_p.Q365H|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	365							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						AGCTGAAGCAGATGAAGGAGA	0.547000													4	64					0	0	1	0	0
KIF2C	11004	broad.mit.edu	37	1	45216179	45216179	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:45216179G>A	ENST00000372217.1	+	4	571	c.220G>A	c.(220-222)Gac>Aac	p.D74N	KIF2C_ENST00000372222.3_Missense_Mutation_p.D15N|KIF2C_ENST00000372224.4_Missense_Mutation_p.D128N|KIF2C_ENST00000372218.4_Missense_Mutation_p.D128N|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	128	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCAGGAGAATGACATGGAGGT	0.572000													4	59					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126241095	126241095	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:126241095T>C	ENST00000394329.3	+	1	3542	c.3529T>C	c.(3529-3531)Ttt>Ctt	p.F1177L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1177	Cadherin 11.				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						TGTGTTTAGCTTTACAGTCAT	0.443000													5	96					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38040415	38040415	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:38040415C>G	ENST00000373062.3	-	11	1251	c.1153G>C	c.(1153-1155)Gaa>Caa	p.E385Q		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	385					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTAATTTTTTCTACTTGAACC	0.373000													14	57					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859965	46859965	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:46859965G>A	ENST00000262738.3	-	2	3821	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F	CELSR1_ENST00000395964.1_Silent_p.F1274F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1274					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGACGGGAAGAACTGGCCGC	0.622000													24	52					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14199645	14199645	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:14199645C>A	ENST00000285021.7	-	9	1952	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	XPC_ENST00000449060.2_Missense_Mutation_p.D543Y	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	580	Interaction with RAD23B.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGTGACATCTCGGACCCAG	0.597000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				16	159					2.48551e-13	2.7108e-13	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122561868	122561868	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:122561868C>G	ENST00000264357.5	+	12	2246	c.1954C>G	c.(1954-1956)Ctc>Gtc	p.L652V	GRIA3_ENST00000371256.5_Missense_Mutation_p.L652V|GRIA3_ENST00000371251.1_Missense_Mutation_p.L652V|GRIA3_ENST00000542149.1_Missense_Mutation_p.L652V	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	652					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TACTGCCAATCTCGCTGCTTT	0.453000													56	51					0	0	1	0	0
TAB3	257397	broad.mit.edu	37	X	30852246	30852246	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:30852246C>G	ENST00000378933.1	-	7	2089	c.1912G>C	c.(1912-1914)Gag>Cag	p.E638Q	TAB3_ENST00000378932.2_Missense_Mutation_p.E610Q|TAB3_ENST00000288422.2_Missense_Mutation_p.E638Q|TAB3_ENST00000378930.3_Missense_Mutation_p.E638Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	638					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTTTTCTCTCAATTGTGCAG	0.473000													4	25					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22404353	22404353	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:22404353T>C	ENST00000334304.5	-	15	2571	c.2302A>G	c.(2302-2304)Atc>Gtc	p.I768V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	768					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGGAGAATGATAGCGGTAGTA	0.438000													8	37					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73536800	73536800	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:73536800G>C	ENST00000339362.5	+	10	2014	c.1567G>C	c.(1567-1569)Gag>Cag	p.E523Q	NEO1_ENST00000560262.1_Missense_Mutation_p.E523Q|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.E523Q|NEO1_ENST00000261908.6_Missense_Mutation_p.E523Q			Q92859	NEO1_HUMAN	neogenin 1	523	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGGCTCAGGAGAGAGTTCAGC	0.483000													7	38					0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89668840	89668840	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:89668840G>C	ENST00000264344.5	-	18	2531	c.2324C>G	c.(2323-2325)tCt>tGt	p.S775C	FAM13A_ENST00000503556.1_Missense_Mutation_p.S435C|FAM13A_ENST00000395002.2_Missense_Mutation_p.S449C|FAM13A_ENST00000511976.1_Missense_Mutation_p.S361C|FAM13A_ENST00000513837.1_Missense_Mutation_p.S421C|FAM13A_ENST00000508369.1_Missense_Mutation_p.S449C	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	775					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CCTCTGAATAGATTCCAATGT	0.488000													44	115					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207287484	207287484	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:207287484C>T	ENST00000367070.3	+	3	376	c.182C>T	c.(181-183)cCg>cTg	p.P61L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	61	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.P61L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGCTGCCCCGATGGATATT	0.468000													14	102					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933319	48933319	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:48933319C>A	ENST00000356463.3	-	9	1051	c.613G>T	c.(613-615)Ggc>Tgc	p.G205C	WDR45_ENST00000553851.1_Missense_Mutation_p.G102C|WDR45_ENST00000396681.4_Missense_Mutation_p.G204C|WDR45_ENST00000322995.8_Missense_Mutation_p.G215C|WDR45_ENST00000485908.1_Missense_Mutation_p.G169C|WDR45_ENST00000376372.3_Missense_Mutation_p.G204C|WDR45_ENST00000473974.1_Missense_Mutation_p.G204C|AF196779.12_ENST00000376358.3_Missense_Mutation_p.G102C|WDR45_ENST00000376368.2_Missense_Mutation_p.G205C	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	204					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ACTACAGTGCCTGGCTGGTTT	0.567000													5	22					0.000602214	0.000615414	1	1	0
HSP90AA1	3320	broad.mit.edu	37	14	102551677	102551677	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:102551677C>T	ENST00000334701.7	-	5	1268	c.987G>A	c.(985-987)gtG>gtA	p.V329V	HSP90AA1_ENST00000441629.2_Silent_p.V28V|HSP90AA1_ENST00000216281.8_Silent_p.V207V	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	207					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AATGTTTCTTCACAATCTCCT	0.388000													4	41					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2084139	2084139	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:2084139C>G	ENST00000382203.1	+	17	2678	c.2469C>G	c.(2467-2469)ttC>ttG	p.F823L	SMARCA2_ENST00000349721.2_Missense_Mutation_p.F823L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.F823L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.F823L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	823	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTGGCAAATTCAATGTCCTCT	0.378000													8	25					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127289	55127289	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:55127289C>G	ENST00000257290.5	+	3	408	c.77C>G	c.(76-78)tCa>tGa	p.S26*	PDGFRA_ENST00000508170.1_Nonsense_Mutation_p.S26*|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	26	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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)	TGCCAGCTTTCATTACCCTCT	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)			35	92					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93845003	93845003	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:93845003G>C	ENST00000315765.9	+	20	3431	c.3423G>C	c.(3421-3423)atG>atC	p.M1141I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1141					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)				GCTCTGCAATGAAGCAGACAG	0.532000													24	126					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99459206	99459206	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:99459206C>T	ENST00000268035.6	+	9	2453	c.1842C>T	c.(1840-1842)ccC>ccT	p.P614P	IGF1R_ENST00000558762.1_Silent_p.P614P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	614	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|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)	CTTCCATTCCCTTGGACGTTC	0.463000													25	102					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27142023	27142023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:27142023G>A	ENST00000222718.5	-	1	407	c.97C>T	c.(97-99)Caa>Taa	p.Q33*		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	33						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GATGAACTTTGAAATGTATCA	0.507000													10	74					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3187488	3187488	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr18:3187488G>A	ENST00000356443.4	-	5	1252	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	MYOM1_ENST00000400569.3_Missense_Mutation_p.R307C|MYOM1_ENST00000261606.7_Missense_Mutation_p.R307C	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	307	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle	p.R307S(1)		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						CACGTGACACGAGGTTCTGGC	0.438000													5	79					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715455	222715455	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:222715455G>T	ENST00000343410.6	-	3	1075	c.1017C>A	c.(1015-1017)ggC>ggA	p.G339G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	339					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GAAGTTGTCCGCCATTATGGT	0.473000													12	32					0.00185496	0.00189044	1	1	0
OPA1	4976	broad.mit.edu	37	3	193374929	193374929	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:193374929G>C	ENST00000361510.2	+	23	2473	c.2239G>C	c.(2239-2241)Gag>Cag	p.E747Q	OPA1_ENST00000361828.2_Missense_Mutation_p.E710Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E729Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E692Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E711Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E693Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	692					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GAAAGGGAAAGAGCATGATGA	0.368000													29	91					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482164	41482164	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:41482164C>G	ENST00000314992.5	-	9	1043	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R	EXD1_ENST00000458580.2_Missense_Mutation_p.G343R	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	285					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTGCAGACCCTTCGCGATAC	0.537000													8	48					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46756132	46756132	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:46756132G>T	ENST00000256689.5	-	15	1801	c.1357C>A	c.(1357-1359)Ctt>Att	p.L453I	SLC38A2_ENST00000551374.1_Missense_Mutation_p.L291I	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	453					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCAGAAGGAAGAATAAAAATC	0.328000													19	39					2.32416e-17	2.55349e-17	1	1	0
PTPMT1	114971	broad.mit.edu	37	11	47591332	47591332	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:47591332G>A	ENST00000534775.1	+	2	610	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_Intron|PTPMT1_ENST00000326656.8_Intron|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000326674.9_Silent_p.Q112Q			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						ACAACCTCCAGAAGGGAGTCC	0.567000													8	53					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333084	18333084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:18333084G>A	ENST00000355502.3	-	6	1163	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	PDE4C_ENST00000594465.3_Nonsense_Mutation_p.Q98*|PDE4C_ENST00000262805.12_Nonsense_Mutation_p.Q66*|PDE4C_ENST00000594617.3_Nonsense_Mutation_p.Q98*|PDE4C_ENST00000447275.3_5'UTR			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	98					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCTGGACTGAGGGTCCAGG	0.612000													6	47					0	0	1	0	0
KLHL11	55175	broad.mit.edu	37	17	40021502	40021502	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:40021502C>G	ENST00000319121.3	-	1	182	c.122G>C	c.(121-123)cGa>cCa	p.R41P		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	41						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCCGCTGCCTCGGACCTCGGC	0.726000													4	21					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52430720	52430720	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:52430720C>G	ENST00000420323.2	+	72	11778	c.11517C>G	c.(11515-11517)ttC>ttG	p.F3839L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3904	AAA 6 (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)		CCCTGGGCTTCAACATCCCCT	0.562000													16	92					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627168	31627168	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:31627168C>T	ENST00000349552.1	+	10	916	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	306						extracellular region	lipid binding										TGTAGCTTATCCCAAGTCAAA	0.517000													15	116					0	0	1	0	0
MSL3P1	151507	broad.mit.edu	37	2	234774744	234774744	+	RNA	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:234774744G>A	ENST00000438684.1	-	0	1370					NR_024322.1																						CACCATGCTAGATGGAGCAGT	0.488000													3	16					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217262	97217262	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:97217262C>G	ENST00000454558.2	+	7	1970	c.793C>G	c.(793-795)Ccc>Gcc	p.P265A	ARID5A_ENST00000357485.3_Missense_Mutation_p.P333A			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	333					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCAGGCAGGCCCCTGCCCGGC	0.657000													5	28					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97944886	97944886	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:97944886C>T	ENST00000005260.8	-	7	740	c.525G>A	c.(523-525)caG>caA	p.Q175Q	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	175	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAATGAATTTCTGGATTTCAC	0.373000													43	142					0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70818064	70818064	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:70818064C>G	ENST00000261776.5	-	5	806	c.546G>C	c.(544-546)gaG>gaC	p.E182D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	182					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AGTAAATCCTCTCTCGCAACA	0.537000													27	35					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513701	165513701	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:165513701G>T	ENST00000294818.1	+	1	458	c.168G>T	c.(166-168)cgG>cgT	p.R56R	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	56						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGAACACCCGGAGGCTGTTCC	0.473000													18	100					1.99824e-07	2.11745e-07	1	1	0
OCA2	4948	broad.mit.edu	37	15	28090152	28090152	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:28090152C>G	ENST00000354638.3	-	23	2540	c.2385G>C	c.(2383-2385)ggG>ggC	p.G795G	OCA2_ENST00000353809.5_Silent_p.G771G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	795			G -> R (in OCA2).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTTCTGCAATCCCTGCACACA	0.403000									Oculocutaneous Albinism				6	30					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94248141	94248141	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:94248141G>C	ENST00000415788.2	-	6	786	c.699C>G	c.(697-699)aaC>aaG	p.N233K	SGCE_ENST00000445866.2_Missense_Mutation_p.N197K|SGCE_ENST00000447873.1_Missense_Mutation_p.N197K|SGCE_ENST00000428696.2_Missense_Mutation_p.N197K|SGCE_ENST00000437425.2_Missense_Mutation_p.N156K|SGCE_ENST00000265735.7_Missense_Mutation_p.N197K			O43556	SGCE_HUMAN	sarcoglycan, epsilon	197					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTTTATGGCGTTCAGGCGCT	0.473000													12	76					0	0	1	0	0
OXNAD1	92106	broad.mit.edu	37	3	16313224	16313224	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:16313224C>A	ENST00000285083.5	+	4	643	c.178C>A	c.(178-180)Cgg>Agg	p.R60R	OXNAD1_ENST00000435829.2_Silent_p.R78R|OXNAD1_ENST00000606098.1_Silent_p.R60R|OXNAD1_ENST00000544043.1_Silent_p.R78R|OXNAD1_ENST00000605932.1_Silent_p.R60R	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	60	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGTCCTTCGACGGGAGGTTTG	0.388000													6	57					3.59834e-05	3.72828e-05	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153692087	153692087	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:153692087C>G	ENST00000304337.2	-	2	890	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	24	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATCTTTTCCTCAATGGATAGG	0.383000													20	84					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45241211	45241211	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:45241211C>T	ENST00000263765.4	+	7	996	c.747C>T	c.(745-747)atC>atT	p.I249I	PRDM11_ENST00000424263.2_Silent_p.I215I|PRDM11_ENST00000528980.1_3'UTR|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Silent_p.I249I			Q9NQV5	PRD11_HUMAN	PR domain containing 11	249	SET.									endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GCAGGGACATCCGGCCTGGGG	0.632000													4	38					0	0	1	0	0
C10orf90	118611	broad.mit.edu	37	10	128192997	128192997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:128192997G>A	ENST00000284694.7	-	3	892	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	C10orf90_ENST00000544758.1_Nonsense_Mutation_p.Q355*|C10orf90_ENST00000392694.1_Nonsense_Mutation_p.Q211*|C10orf90_ENST00000454341.1_Nonsense_Mutation_p.Q258*|C10orf90_ENST00000356858.3_Nonsense_Mutation_p.Q211*|C10orf90_ENST00000368674.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	258										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GGACACTGCTGAGACACCCTG	0.527000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	44					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55685909	55685909	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:55685909G>C	ENST00000354308.3	-	8	1305	c.936C>G	c.(934-936)ttC>ttG	p.F312L	SYT5_ENST00000590851.1_Missense_Mutation_p.F308L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.F312L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	312	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGGCACCTCGAAGCTGAAAG	0.517000													10	87					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675884	54675884	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:54675884G>C	ENST00000546500.1	+	4	905	c.290G>C	c.(289-291)aGa>aCa	p.R97T	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R97T|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R97T|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.R97T			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	97	Globular B domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GATTCTCAAAGACCAGGTGCC	0.338000													10	35					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77448962	77448962	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:77448962G>A	ENST00000451710.3	-	6	858	c.621C>T	c.(619-621)atC>atT	p.I207I	TRPM6_ENST00000376871.3_Silent_p.I207I|TRPM6_ENST00000376864.4_Silent_p.I207I|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Silent_p.I207I|TRPM6_ENST00000449912.2_Silent_p.I202I|TRPM6_ENST00000361255.3_Silent_p.I202I|TRPM6_ENST00000360774.1_Silent_p.I207I|TRPM6_ENST00000359047.2_Silent_p.I207I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	207					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCCAAGGAGGGATTCCAACTG	0.423000													28	46					0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75564160	75564160	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:75564160G>A	ENST00000336257.3	-	3	1517	c.123C>T	c.(121-123)acC>acT	p.T41T	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.T47T	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	41					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCAGGAGGCAGGTGGTCTGTG	0.667000													4	17					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124238847	124238847	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:124238847G>C	ENST00000276704.4	-	5	892	c.841C>G	c.(841-843)Cag>Gag	p.Q281E	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q249E	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	281							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GATGTTTGCTGAGGTTGGGTA	0.438000													5	53					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400092	41400092	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:41400092C>A	ENST00000373198.4	-	5	902	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	PTPRT_ENST00000373201.1_Missense_Mutation_p.D223Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D223Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.D223Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D223Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D223Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D223Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Ig-like C2-type.				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.D223N(1)		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)				CAAAGCTTGTCATGCTGAGAC	0.498000													123	307					5.18985e-55	5.72726e-55	1	1	0
CCT2	10576	broad.mit.edu	37	12	69986852	69986852	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:69986852C>A	ENST00000543146.2	+	9	1188	c.706C>A	c.(706-708)Ctt>Att	p.L236I	CCT2_ENST00000544368.2_Missense_Mutation_p.L283I|CCT2_ENST00000299300.6_Missense_Mutation_p.L283I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	283					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGAACGTATTCTTAAGCATGG	0.323000													6	57					0.0293803	0.0296186	1	1	0
ADORA3	140	broad.mit.edu	37	1	112106471	112106471	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:112106471G>A	ENST00000369717.4	-	1	113	c.104C>T	c.(103-105)tCa>tTa	p.S35L	RAP1A_ENST00000356415.1_Intron	NM_001081976.1	NP_001075445.1	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	gactcactgTGACTCAGGACT	0.532000													14	95					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27415709	27415709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:27415709C>A	ENST00000326799.3	-	10	1184	c.1036G>T	c.(1036-1038)Gaa>Taa	p.E346*	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Nonsense_Mutation_p.E256*|YME1L1_ENST00000376016.3_Nonsense_Mutation_p.E289*	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	346					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAGCTTCCTCCACCTAA	0.303000													3	20					0.00909568	0.00920675	1	1	0
MSRB2	22921	broad.mit.edu	37	10	23408303	23408303	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:23408303G>C	ENST00000376510.3	+	4	470	c.367G>C	c.(367-369)Gat>Cat	p.D123H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	123					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GTCTGGCTCTGATGAAAGCCA	0.493000													10	86					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36749297	36749297	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:36749297G>A	ENST00000280527.2	+	13	2636	c.2269G>A	c.(2269-2271)Gaa>Aaa	p.E757K		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	757	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAAAAATGATGAAGGGGATAT	0.453000													13	72					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129042093	129042093	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:129042093G>C	ENST00000394422.3	+	3	188	c.160G>C	c.(160-162)Gat>Cat	p.D54H	UTP14A_ENST00000425117.2_Missense_Mutation_p.D54H|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.L21F	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	54					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAGTTCCCTTGATGGAAAGAA	0.423000													10	24					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67473727	67473727	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:67473727C>T	ENST00000327367.4	+	6	1117	c.807C>T	c.(805-807)ttC>ttT	p.F269F	SMAD3_ENST00000537194.2_Silent_p.F74F|SMAD3_ENST00000439724.3_Silent_p.F225F|SMAD3_ENST00000540846.2_Silent_p.F164F	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	269	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGGAGCGCTTCTGCCTAGGGC	0.617000													25	21					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68009902	68009902	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:68009902C>A	ENST00000268793.4	-	10	1681	c.1308G>T	c.(1306-1308)gtG>gtT	p.V436V		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	411					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCTCCTCTCTCACCTGGGGGA	0.602000													8	63					1.06961e-07	1.13665e-07	1	1	0
BAI2	576	broad.mit.edu	37	1	32196971	32196971	+	Silent	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:32196971T>C	ENST00000373658.3	-	29	4151	c.3810A>G	c.(3808-3810)acA>acG	p.T1270T	BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.T879T|BAI2_ENST00000398556.3_Silent_p.T1185T|BAI2_ENST00000373655.2_Silent_p.T1270T|BAI2_ENST00000257070.4_Silent_p.T1237T|BAI2_ENST00000398547.1_Silent_p.T1203T|BAI2_ENST00000527361.1_Silent_p.T1237T|BAI2_ENST00000398542.1_Silent_p.T1170T|BAI2_ENST00000398538.1_Silent_p.T1258T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1270					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)		GGCGGGATAGTGTGCCCGTGA	0.622000													5	20					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13231031	13231031	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:13231031G>C	ENST00000378694.1	+	9	1441	c.1366G>C	c.(1366-1368)Gat>Cat	p.D456H	MCM10_ENST00000378714.3_Missense_Mutation_p.D456H|MCM10_ENST00000484800.2_Missense_Mutation_p.D457H			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	457					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GCTGTGCCAAGATGGCTTTTA	0.517000													19	127					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346585	131346585	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:131346585C>G	ENST00000358161.5	+	17	2331	c.2218C>G	c.(2218-2220)Cag>Gag	p.Q740E	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q740E|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q740E			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	740					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CATCACCATTCAGGCCCGCCA	0.473000													21	35					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129832510	129832510	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:129832510C>G	ENST00000397622.2	-	6	849	c.727G>C	c.(727-729)Gat>Cat	p.D243H	TMEM209_ENST00000336804.8_Missense_Mutation_p.D242H|TMEM209_ENST00000473456.1_Missense_Mutation_p.D243H|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Missense_Mutation_p.D242H	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	243						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AGAAAAGTATCCAAAGTTCGT	0.408000													10	40					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933461	150933461	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:150933461G>C	ENST00000271640.5	+	16	3113	c.2923G>C	c.(2923-2925)Gag>Cag	p.E975Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.E975Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	975	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCCTCCGAAGAGACACCCAA	0.512000													39	149					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151171181	151171181	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:151171181C>T	ENST00000282466.3	-	3	705	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	236	LRRCT.				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)			CCTGGCTTCTCCTGTATCCAG	0.423000													11	95					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792300	137792300	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:137792300C>G	ENST00000242375.3	+	7	871	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	AKR1D1_ENST00000432161.1_Missense_Mutation_p.L277V|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.L236V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	277					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AAGCTTTAATCTTGAAAGGAT	0.363000													11	105					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626595	140626595	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:140626595C>T	ENST00000231173.3	+	1	1449	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		483	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGCACCAACGCCCAGGTCA	0.652000													28	65					0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73923841	73923841	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:73923841G>C	ENST00000295890.4	-	6	1083	c.992C>G	c.(991-993)tCa>tGa	p.S331*	COX18_ENST00000507544.2_Nonsense_Mutation_p.S332*	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	331					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCATTTTCTTGAAATGAACTT	0.338000													6	67					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40981225	40981225	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:40981225G>T	ENST00000372703.1	+	2	2083	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	EXO5_ENST00000296380.4_Missense_Mutation_p.V337L|EXO5_ENST00000358527.2_Missense_Mutation_p.V337L					exonuclease 5																		GGGAGTTGACGTGGAGGAGGC	0.557000													5	31					0.184627	0.185124	1	1	0
KRCC1	51315	broad.mit.edu	37	2	88327580	88327580	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:88327580C>G	ENST00000347055.3	-	4	896	c.503G>C	c.(502-504)aGa>aCa	p.R168T		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	168	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGATTTTTCTCTGCCTTCCTC	0.423000													28	87					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341949	100341949	+	Splice_Site	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:100341949A>C	ENST00000437033.2	-	6	1069	c.566T>G	c.(565-567)gTc>gGc	p.V189G	ADH7_ENST00000209665.4_Splice_Site_p.V201G|ADH7_ENST00000476959.1_Splice_Site_p.V209G|ADH7_ENST00000482593.1_Splice_Site_p.V132G			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	201					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACCAGGTTTGACCTGTGGAGA	0.473000													5	33					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152708509	152708509	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:152708509C>G	ENST00000367255.5	-	54	8786	c.8185G>C	c.(8185-8187)Gag>Cag	p.E2729Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E2768Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2729Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2736Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2736Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2729					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		ATCACAGACTCTAAAGTGCTA	0.358000										HNSCC(10;0.0054)			9	48					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092804	143092804	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:143092804C>G	ENST00000367603.2	-	5	3814	c.3072G>C	c.(3070-3072)caG>caC	p.Q1024H	HIVEP2_ENST00000012134.2_Missense_Mutation_p.Q1024H|HIVEP2_ENST00000367604.1_Missense_Mutation_p.Q1024H	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1024					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)		GCATCTCTTTCTGGTGGTGAT	0.502000													10	57					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48584583	48584583	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:48584583C>G	ENST00000537810.1	-	20	2521	c.1917G>C	c.(1915-1917)aaG>aaC	p.K639N	FRYL_ENST00000358350.4_Missense_Mutation_p.K639N|FRYL_ENST00000507711.1_Missense_Mutation_p.K639N|FRYL_ENST00000506685.1_Missense_Mutation_p.K345N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K639N			O94915	FRYL_HUMAN	FRY-like	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTACCAACATCTTTACGGCAT	0.373000													16	46					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026722	65026722	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:65026722G>C	ENST00000262138.3	+	4	588	c.586G>C	c.(586-588)Gag>Cag	p.E196Q		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	196					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CATTGTGGCTGAGACCGTGGG	0.458000													28	61					0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16060300	16060300	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:16060300C>T	ENST00000375799.3	+	20	3158	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	PLEKHM2_ENST00000375793.2_Silent_p.L957L|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	977					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGTGGACCTCCCCCACACGG	0.632000													10	64					0	0	1	0	0
ULK2	9706	broad.mit.edu	37	17	19689252	19689252	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:19689252G>A	ENST00000395544.4	-	21	2748	c.2249C>T	c.(2248-2250)tCa>tTa	p.S750L	ULK2_ENST00000361658.2_Missense_Mutation_p.S750L	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	750					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTCCTTACCTGAGGTTGTTCT	0.448000													5	21					0	0	1	0	0
PPIE	10450	broad.mit.edu	37	1	40208914	40208914	+	Silent	SNP	A	A	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:40208914A>T	ENST00000324379.5	+	5	247	c.228A>T	c.(226-228)acA>acT	p.T76T	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Silent_p.T76T|PPIE_ENST00000372830.1_Silent_p.T76T|PPIE_ENST00000470213.1_Silent_p.T76T	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	76	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGGACGTACAATTCGTGTCA	0.428000													4	67					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863803	74863803	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:74863803C>T	ENST00000296027.4	-	3	449	c.252G>A	c.(250-252)ctG>ctA	p.L84L		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	84					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TCCCGTTCTTCAGGGAGGCTC	0.453000													13	86					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60780956	60780956	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:60780956C>T	ENST00000313421.7	+	7	1398	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CD6_ENST00000346437.4_Silent_p.P404P|CD6_ENST00000344028.5_Silent_p.P404P|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Silent_p.P404P|CD6_ENST00000452451.2_Silent_p.P404P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	404					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCTCATCCCCTCCATCGTTC	0.438000													37	140					0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4634670	4634670	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:4634670G>A	ENST00000261250.3	-	5	673	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	C12orf4_ENST00000545746.1_Nonsense_Mutation_p.Q196*	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	196										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TCAAAATGCTGAGCAGCCAGT	0.313000													15	104					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619436	8619436	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:8619436G>A	ENST00000338257.8	-	4	518	c.251C>T	c.(250-252)cCg>cTg	p.P84L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	84	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTAGATGTGCGGGGGATTCTC	0.612000													8	41					0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132322	42132322	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:42132322G>C	ENST00000221954.2	-	2	187	c.77C>G	c.(76-78)aCc>aGc	p.T26S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.T26S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	26						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GTGCCAGAAGGTTAAAAGTGA	0.527000													6	85					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155470071	155470071	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:155470071G>C	ENST00000499023.2	-	2	152	c.26C>G	c.(25-27)tCt>tGt	p.S9C	PLRG1_ENST00000302078.5_Missense_Mutation_p.S9C|PLRG1_ENST00000393905.2_Missense_Mutation_p.S9C	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	9						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)				GGTGTGTACAGAATGTTTCTG	0.373000													7	39					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101103664	101103664	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:101103664C>G	ENST00000369162.2	-	17	3078	c.2734G>C	c.(2734-2736)Gaa>Caa	p.E912Q		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	912	Helicase C-terminal 1.				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)		TTCACTGCTTCTTCCACATTA	0.353000													19	99					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82550366	82550366	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:82550366C>T	ENST00000313010.3	-	7	1217	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Silent_p.V236V|PRCP_ENST00000393399.2_Silent_p.V362V	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	341					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCAGGCATTTCACCTGGCCCG	0.393000													15	120					0	0	1	0	0
DDX19B	11269	broad.mit.edu	37	16	70363796	70363796	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:70363796A>C	ENST00000288071.6	+	9	1093	c.848A>C	c.(847-849)aAg>aCg	p.K283T	DDX19B_ENST00000355992.3_Missense_Mutation_p.K252T|DDX19B_ENST00000393657.2_Missense_Mutation_p.K174T|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.K174T|DDX19B_ENST00000563206.1_Missense_Mutation_p.K288T|DDX19B_ENST00000451014.3_Missense_Mutation_p.K257T|DDX19B_ENST00000563392.1_Missense_Mutation_p.K174T|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	283	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCTGTGTGGAAGTTTGCCCAG	0.562000													5	79					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959879	50959879	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:50959879G>A	ENST00000374103.4	-	6	828	c.743C>T	c.(742-744)tCc>tTc	p.S248F	OGDHL_ENST00000419399.1_Missense_Mutation_p.S191F|OGDHL_ENST00000432695.1_Missense_Mutation_p.S39F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	248					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAACCTCATGGAGCGCACTAG	0.627000													14	67					0	0	1	0	0
FZD4	8322	broad.mit.edu	37	11	86663230	86663230	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:86663230G>C	ENST00000531380.1	-	2	873	c.568C>G	c.(568-570)Cag>Gag	p.Q190E	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	190					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTG	0.517000													9	58					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95451379	95451379	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:95451379G>A	ENST00000333003.5	-	7	1063	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	NR2C1_ENST00000330677.7_Missense_Mutation_p.H245Y|NR2C1_ENST00000393101.3_Missense_Mutation_p.H245Y|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	245					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CCAGATGGATGAATATTCATG	0.343000													26	32					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8555860	8555860	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:8555860G>T	ENST00000423345.4	-	6	2174	c.1654C>A	c.(1654-1656)Cca>Aca	p.P552T	PRAM1_ENST00000255612.3_Missense_Mutation_p.P551T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	600							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AACTGCTGTGGCTGGGGATCC	0.592000													14	141					2.31682e-05	2.41053e-05	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	63					0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25655818	25655818	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:25655818G>C	ENST00000406818.3	-	14	1643	c.1394C>G	c.(1393-1395)tCc>tGc	p.S465C	DTNB_ENST00000405222.1_Missense_Mutation_p.S435C|DTNB_ENST00000404103.3_Missense_Mutation_p.S465C|DTNB_ENST00000407661.3_Missense_Mutation_p.S465C|DTNB_ENST00000288642.8_Missense_Mutation_p.S465C|DTNB_ENST00000496972.2_Missense_Mutation_p.S408C|DTNB_ENST00000407186.1_Missense_Mutation_p.S435C|DTNB_ENST00000407038.3_Missense_Mutation_p.S435C|DTNB_ENST00000545439.1_Missense_Mutation_p.S261C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	465						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGGCTGGGAGGCCTGCTC	0.597000													8	10					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24668748	24668748	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:24668748G>A	ENST00000361548.4	+	9	1421	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	GRHL3_ENST00000350501.5_Silent_p.K397K|GRHL3_ENST00000236255.4_Silent_p.K402K|GRHL3_ENST00000342072.4_Silent_p.K304K|GRHL3_ENST00000356046.2_Silent_p.K351K	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	397					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GCCAGATCAAGATCTTCTGTG	0.587000													7	54					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30495200	30495200	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:30495200C>T	ENST00000356798.6	+	8	955	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.L176F|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_3'UTR	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	259	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	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)	CACCAAAGTGCTTATCATCAT	0.597000													32	87					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128715244	128715244	+	Silent	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:128715244A>G	ENST00000296464.4	+	2	531	c.120A>G	c.(118-120)tcA>tcG	p.S40S	HSPA4L_ENST00000508776.1_Silent_p.S40S|HSPA4L_ENST00000505726.1_Silent_p.S14S|HSPA4L_ENST00000439123.2_Silent_p.S71S	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CCTGTATATCATTGGGATCAA	0.328000													24	96					0	0	1	0	0
GSC	145258	broad.mit.edu	37	14	95234934	95234934	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:95234934G>A	ENST00000238558.3	-	3	877	c.668C>T	c.(667-669)tCa>tTa	p.S223L		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	223					gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CGACTCCTCTGATGAGGACCG	0.567000													23	86					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082533	152082533	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:152082533C>T	ENST00000368804.1	-	2	3159	c.3160G>A	c.(3160-3162)Gag>Aag	p.E1054K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1054	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgcagctcctcttcctccCGA	0.582000													49	187					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128341090	128341090	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:128341090C>G	ENST00000296255.3	-	9	1606	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	RPN1_ENST00000497289.1_Missense_Mutation_p.E348Q	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	520					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TGTTCAGTCTCCAGGCTCTTC	0.532000			T	EVI1	AML								16	72					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220805572	220805572	+	Missense_Mutation	SNP	G	G	C	rs35566206		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:220805572G>C	ENST00000402574.1	+	11	1636	c.634G>C	c.(634-636)Gat>Cat	p.D212H	MARK1_ENST00000366918.4_Missense_Mutation_p.D325H|MARK1_ENST00000366917.4_Missense_Mutation_p.D347H	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	347	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTTTGCACGAGATGAAATAAA	0.308000													24	200					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936114	48936114	+	Missense_Mutation	SNP	A	A	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:48936114A>T	ENST00000294954.7	-	8	674	c.653T>A	c.(652-654)tTc>tAc	p.F218Y	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.F218Y|LHCGR_ENST00000403273.1_Missense_Mutation_p.F218Y|LHCGR_ENST00000405626.1_Missense_Mutation_p.F218Y|LHCGR_ENST00000401907.1_Missense_Mutation_p.F218Y	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	218					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)	GGCCCCACGGAAGGCTCCATT	0.537000													17	74					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40981224	40981224	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:40981224C>A	ENST00000372703.1	+	2	2082	c.1008C>A	c.(1006-1008)gaC>gaA	p.D336E	EXO5_ENST00000296380.4_Missense_Mutation_p.D336E|EXO5_ENST00000358527.2_Missense_Mutation_p.D336E					exonuclease 5																		AGGGAGTTGACGTGGAGGAGG	0.557000													5	33					1.23904e-05	1.29276e-05	1	1	0
NELL1	4745	broad.mit.edu	37	11	20805300	20805300	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:20805300T>G	ENST00000298925.5	+	4	496	c.343T>G	c.(343-345)Ttc>Gtc	p.F115V	NELL1_ENST00000532434.1_Missense_Mutation_p.F87V|NELL1_ENST00000357134.5_Missense_Mutation_p.F87V|NELL1_ENST00000325319.5_Missense_Mutation_p.F87V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	87	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CAAGAGTGAATTCACCATTTT	0.443000													8	62					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70768675	70768675	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:70768675G>A	ENST00000361983.4	+	5	970	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	KIAA1279_ENST00000481912.1_3'UTR	NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	290					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTCAGCCACAGAAGACAGTAA	0.338000													26	125					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235582873	235582873	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:235582873C>G	ENST00000543662.1	+	5	563	c.457C>G	c.(457-459)Cct>Gct	p.P153A	RP11-293G6__A.2_ENST00000430613.2_RNA|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.P153A|TBCE_ENST00000366601.3_Missense_Mutation_p.P153A			Q15813	TBCE_HUMAN	tubulin folding cofactor E	153					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TGAAGCATGTCCTAGTATCCT	0.443000													19	60					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285275	74285275	+	Silent	SNP	G	G	A	rs11538206		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:74285275G>A	ENST00000295897.4	+	13	1793	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	ALB_ENST00000415165.2_Silent_p.L376L|ALB_ENST00000509063.1_Silent_p.L568L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Silent_p.L418L|ALB_ENST00000401494.3_Silent_p.L453L	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	568	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.L568L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAGCAACTGAAAGCTGTTA	0.413000													22	78					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330777	5330777	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:5330777G>C	ENST00000396872.3	+	4	485	c.324G>C	c.(322-324)atG>atC	p.M108I	SLC29A4_ENST00000406453.3_Missense_Mutation_p.M108I|SLC29A4_ENST00000297195.4_Missense_Mutation_p.M108I			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGTTTGACATGAGCCTCACCT	0.627000													4	42					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111506249	111506249	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:111506249G>A	ENST00000369763.4	-	1	452	c.62C>T	c.(61-63)tCg>tTg	p.S21L	LRIF1_ENST00000485275.2_5'UTR|RP11-96K19.5_ENST00000609118.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTACCAACGCGAGGCGTTGCC	0.547000											OREG0013667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	17					0	0	1	0	0
RAB9A	9367	broad.mit.edu	37	X	13727081	13727081	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:13727081G>C	ENST00000464506.1	+	3	495	c.216G>C	c.(214-216)ctG>ctC	p.L72L	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	72					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCCGAAGCCTGAGGACACCAT	0.418000													24	93					0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103450864	103450864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:103450864G>A	ENST00000376004.4	-	1	493	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	53						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCCACTGCCTGAATATAGAAA	0.498000													19	22					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117629102	117629102	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:117629102C>G	ENST00000369466.4	+	12	2162	c.2118C>G	c.(2116-2118)aaC>aaG	p.N706K		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTCCCACAAACAAGCAAGAGG	0.507000													4	18					0	0	1	0	0
CA11	770	broad.mit.edu	37	19	49143534	49143534	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:49143534G>T	ENST00000084798.4	-	4	968	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	97						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AAGGTTCCCCGGAGCTGTGGG	0.547000													11	37					3.86212e-05	3.97948e-05	1	1	0
CFL1	1072	broad.mit.edu	37	11	65623443	65623443	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:65623443T>C	ENST00000525451.2	-	3	989	c.274A>G	c.(274-276)Aag>Gag	p.K92E	CFL1_ENST00000524553.1_Missense_Mutation_p.K75E|CFL1_ENST00000308162.5_Missense_Mutation_p.K92E|CFL1_ENST00000527344.1_Missense_Mutation_p.K75E|CFL1_ENST00000534769.1_Missense_Mutation_p.K130E|CFL1_ENST00000531413.1_Missense_Mutation_p.K75E|CFL1_ENST00000531407.1_Missense_Mutation_p.K75E			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	92	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TTGCTCTCCTTGGTCTCATAG	0.527000													16	88					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914038	74914038	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:74914038G>T	ENST00000531756.1	+	7	1403	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000289575.5_Intron|SLCO2B1_ENST00000532236.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000428359.2_Intron			O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	276					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GACCATTGGTGGTGGTGATGG	0.522000													8	66					1.12685e-05	1.17901e-05	1	1	0
C7orf26	79034	broad.mit.edu	37	7	6629917	6629917	+	Translation_Start_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:6629917G>A	ENST00000344417.5	+	1	270	c.3G>A	c.(1-3)atG>atA	p.M1I	C7orf26_ENST00000359073.5_Start_Codon_SNP_p.M1I	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	1										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		gccgcACCATGAGCGACATCC	0.716000													3	21					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358003	72358003	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:72358003C>T	ENST00000441259.1	-	3	1634	c.1474G>A	c.(1474-1476)Gac>Aac	p.D492N	PRF1_ENST00000373209.2_Missense_Mutation_p.D492N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	492	C2.				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						CCAAGGAGGTCATCGTCCCTG	0.587000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				6	69					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813027	2813027	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:2813027A>G	ENST00000301740.8	+	11	3047	c.2498A>G	c.(2497-2499)cAa>cGa	p.Q833R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	833	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA 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						CCATCAAGACAAAGTCATTCC	0.488000													35	135					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35444430	35444430	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:35444430C>T	ENST00000237536.4	-	5	1756	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	SOGA1_ENST00000357779.3_Missense_Mutation_p.R234Q|SOGA1_ENST00000279034.6_Missense_Mutation_p.R234Q|SOGA1_ENST00000456801.2_Missense_Mutation_p.R75Q	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	234										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCAGGCCTCGGTTCTCCAC	0.667000													4	24					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39241090	39241090	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:39241090T>C	ENST00000426016.1	-	13	2067	c.1981A>G	c.(1981-1983)Ata>Gta	p.I661V	SOS1_ENST00000395038.2_Missense_Mutation_p.I661V|SOS1_ENST00000402219.2_Missense_Mutation_p.I661V			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	661	N-terminal Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTATAGCTATGCGATCAGCT	0.338000									Noonan syndrome				9	35					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562457	142562457	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:142562457G>A	ENST00000392957.2	+	7	1686	c.899G>A	c.(898-900)cGc>cAc	p.R300H	EPHB6_ENST00000411471.2_Missense_Mutation_p.R23H|EPHB6_ENST00000442129.1_Missense_Mutation_p.R300H	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	300	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGGGCTGCCGCTGCCAGCCT	0.677000													26	92					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26639286	26639286	+	Silent	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:26639286A>G	ENST00000381340.3	-	41	5978	c.5562T>C	c.(5560-5562)gaT>gaC	p.D1854D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1854					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTAGTGTTGAATCTCTTACTG	0.318000													5	59					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57986505	57986505	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:57986505G>C	ENST00000343280.4	-	4	469	c.209C>G	c.(208-210)tCt>tGt	p.S70C	ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000425074.3_Intron|ZNF772_ENST00000600175.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		GGACATGAAAGATGTATGTCC	0.453000													12	81					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32346550	32346550	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:32346550C>G	ENST00000375200.1	+	7	1331	c.966C>G	c.(964-966)ctC>ctG	p.L322L	ZNF341_ENST00000342427.2_Silent_p.L315L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CTCAGAAACTCAAGTGCTCAT	0.562000													19	93					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902943	60902943	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:60902943G>C	ENST00000252999.3	-	36	4842	c.4776C>G	c.(4774-4776)ctC>ctG	p.L1592L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1592	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGCCCTGTGAGGGGGTCAC	0.662000													7	43					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185390367	185390367	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:185390367G>A	ENST00000382199.2	-	10	1257	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	IGF2BP2_ENST00000494906.1_Intron|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R394C|IGF2BP2_ENST00000346192.3_Intron|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R331C	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	388					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGAGCTCCGCGGGGCCCTGCT	0.597000													7	19					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054182	106054182	+	RNA	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:106054182G>A	ENST00000390539.2	-	0	336																											AGCGACAGTCGGGGGTGGCAG	0.672000													3	10					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112720752	112720752	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:112720752C>G	ENST00000408903.3	-	2	743	c.328G>C	c.(328-330)Gat>Cat	p.D110H	CTD-2201G3.1_ENST00000416046.2_RNA	NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCAGAAAGATCTACTTCCTCC	0.453000													18	41					0	0	1	0	0
FOSB	2354	broad.mit.edu	37	19	45976150	45976150	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:45976150G>A	ENST00000353609.3	+	4	1489	c.897G>A	c.(895-897)tcG>tcA	p.S299S	FOSB_ENST00000585836.1_Silent_p.S224S|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_3'UTR|FOSB_ENST00000443841.2_Silent_p.S156S|FOSB_ENST00000417353.2_Silent_p.S263S|FOSB_ENST00000586615.1_Silent_p.S250S|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000591858.1_Silent_p.S260S	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	299					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TTAACCCTTCGTACACTTCTT	0.612000													25	73					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929021	4929021	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:4929021T>A	ENST00000359350.4	+	1	422	c.422T>A	c.(421-423)gTt>gAt	p.V141D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAACAGGGTTGCTAAAATG	0.373000													18	57					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842624	14842624	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:14842624G>C	ENST00000380881.4	-	10	2246	c.1431C>G	c.(1429-1431)ctC>ctG	p.L477L	FREM1_ENST00000380880.3_Silent_p.L476L|FREM1_ENST00000422223.2_Silent_p.L476L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	476					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)		CTCCAGCCTGGAGGTCAGCCA	0.532000													33	70					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62053614	62053614	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:62053614C>G	ENST00000404929.1	-	7	2138	c.2127G>C	c.(2125-2127)gaG>gaC	p.E709D	FAM161A_ENST00000405894.3_Missense_Mutation_p.E653D	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	653					response to stimulus|visual perception	centrosome		p.E544D(1)|p.E653D(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAACAGATTTCTCTTCTTCAC	0.408000													5	17					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584311	82584311	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:82584311C>T	ENST00000333891.9	-	5	6295	c.5958G>A	c.(5956-5958)caG>caA	p.Q1986Q	PCLO_ENST00000423517.2_Silent_p.Q1986Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						CTCTTCCTTTCTGCTGCATAA	0.358000													57	90					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54777689	54777689	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:54777689G>A	ENST00000218436.6	-	12	3506	c.3477C>T	c.(3475-3477)atC>atT	p.I1159I		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	1159					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AACTGCGGCTGATGGTGATAG	0.587000													17	18					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17984953	17984953	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:17984953G>C	ENST00000222248.3	+	2	711	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	122					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCAGTACCTGGAGATGCGCTT	0.667000													3	18					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910968	32910968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:32910968G>T	ENST00000544455.1	+	11	2703	c.2476G>T	c.(2476-2478)Gaa>Taa	p.E826*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.E826*	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	826	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCTTTAAATGAAAATTATAA	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			9	34					0.000274275	0.000281057	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44172056	44172056	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:44172056G>C	ENST00000262419.6	-	3	1771	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	KANSL1_ENST00000574590.1_Nonsense_Mutation_p.S434*|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Nonsense_Mutation_p.S434*|KANSL1_ENST00000572904.1_Nonsense_Mutation_p.S434*|KANSL1_ENST00000432791.1_Nonsense_Mutation_p.S434*	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	434						MLL1 complex	protein binding										TTTCCATTCTGACCTGCGTCT	0.453000													16	95					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939810	40939810	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:40939810G>A	ENST00000246914.5	+	8	1777	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	WNK4_ENST00000587705.1_Intron	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	586					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTGCGAGACTGATGGCTACCT	0.607000													9	56					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092379	143092379	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:143092379G>A	ENST00000367603.2	-	5	4239	c.3497C>T	c.(3496-3498)tCt>tTt	p.S1166F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1166F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S1166F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1166					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)		ATTTCTCAAAGATTCCTGACT	0.522000													12	78					0	0	1	0	0
PTPN9	5780	broad.mit.edu	37	15	75801291	75801291	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:75801291G>C	ENST00000306726.2	-	6	1118	c.606C>G	c.(604-606)atC>atG	p.I202M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	202	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAGGAGACTGATGATGGAAT	0.473000													3	41					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2054135	2054135	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:2054135C>G	ENST00000262113.4	+	22	2979	c.2838C>G	c.(2836-2838)tcC>tcG	p.S946S	MYOM2_ENST00000523438.1_Silent_p.S371S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	946	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGTGTAAATCCTACGAGGAGA	0.468000													10	53					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57135275	57135275	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:57135275C>G	ENST00000296318.7	-	11	1184	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	IL17RD_ENST00000463523.1_Missense_Mutation_p.D222H|IL17RD_ENST00000427856.2_Missense_Mutation_p.D342H|IL17RD_ENST00000320057.5_Missense_Mutation_p.D222H	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	366	SEFIR.					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)		TTCTGGCCATCTTTACTGGAA	0.517000													3	25					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33235673	33235673	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:33235673C>T	ENST00000445902.2	-	9	1120	c.902G>A	c.(901-903)cGc>cAc	p.R301H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	301					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGGTAAGAGCGGTAGTAAGA	0.527000													15	96					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265386	42265386	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:42265386G>C	ENST00000199764.6	+	3	872	c.654G>C	c.(652-654)caG>caC	p.Q218H	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	218	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GTGAAATACAGAACCCAGCGA	0.547000													87	155					0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71069188	71069188	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:71069188G>C	ENST00000452400.2	-	11	1593	c.1412C>G	c.(1411-1413)tCa>tGa	p.S471*	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	471					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GCTGCTTTGTGAGGGGCTGTT	0.562000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								23	63					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55408749	55408749	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:55408749C>G	ENST00000401408.1	-	10	1483	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	CLHC1_ENST00000407122.1_Missense_Mutation_p.E380Q|CLHC1_ENST00000406076.1_Missense_Mutation_p.E258Q|CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406437.2_5'UTR	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		AACCGTTTTTCTGATAATCCA	0.343000													7	54					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25002810	25002810	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:25002810G>C	ENST00000261192.7	-	6	1110	c.584C>G	c.(583-585)tCa>tGa	p.S195*	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Nonsense_Mutation_p.S134*|BCAT1_ENST00000539282.1_Nonsense_Mutation_p.S207*|BCAT1_ENST00000539780.1_Nonsense_Mutation_p.S158*|BCAT1_ENST00000538118.1_Nonsense_Mutation_p.S194*	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	195					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGTTCCACTTGAAAAATAAGG	0.473000													16	80					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860626	183860626	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:183860626G>A	ENST00000273783.3	+	11	1728	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	EIF2B5_ENST00000444495.1_Missense_Mutation_p.E536K	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	536					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TATGGATTCTGAGGAGCCGGA	0.488000													6	11					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418242	105418242	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:105418242G>C	ENST00000333244.5	-	7	3665	c.3546C>G	c.(3544-3546)atC>atG	p.I1182M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1182						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)			CCGAGGCCTCGATGGACTTGC	0.597000													17	96					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36657921	36657921	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:36657921C>G	ENST00000431169.1	-	10	1033	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	AOAH_ENST00000258749.5_Missense_Mutation_p.E245Q|AOAH_ENST00000535891.1_Missense_Mutation_p.E213Q	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	245					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						AATTTCTTCTCATATGGAACT	0.338000													14	61					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860370	183860370	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:183860370G>T	ENST00000273783.3	+	10	1647	c.1525G>T	c.(1525-1527)Gaa>Taa	p.E509*	EIF2B5_ENST00000444495.1_Nonsense_Mutation_p.E509*	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	509	Poly-Glu.				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGAAGAGGAGGAACTGCAGCA	0.488000													7	18					0.000157383	0.000161719	1	1	0
TRBC2	28638	broad.mit.edu	37	7	142498786	142498786	+	RNA	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:142498786C>G	ENST00000466254.1	+	0	62																											AAGCAGAGATCTCCCACACCC	0.572000													9	93					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147741316	147741316	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:147741316C>G	ENST00000513335.1	-	11	1339	c.1140G>C	c.(1138-1140)gtG>gtC	p.V380V	TTC29_ENST00000325106.4_Silent_p.V354V|TTC29_ENST00000398886.4_Silent_p.V380V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	354							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TACTTGCTCTCACCAAATCTA	0.338000													12	54					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797359	29797359	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:29797359G>T	ENST00000428701.1	+	5	962	c.784G>T	c.(784-786)Gat>Tat	p.D262Y	HLA-G_ENST00000376818.3_Missense_Mutation_p.D170Y|HLA-G_ENST00000360323.6_Missense_Mutation_p.D262Y|HLA-G_ENST00000376828.2_Missense_Mutation_p.D267Y|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	262	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCCTGCAGGGGATGGAACCTT	0.637000													13	85					5.50884e-06	5.78816e-06	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155448355	155448355	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:155448355G>C	ENST00000368346.3	-	3	4945	c.4306C>G	c.(4306-4308)Cct>Gct	p.P1436A	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1436A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1436					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|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)			TATTTGGCAGGATTGAGAAGT	0.478000													46	76					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42560970	42560970	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:42560970G>A	ENST00000262895.3	-	7	746	c.747C>T	c.(745-747)ttC>ttT	p.F249F	GRIK5_ENST00000593562.1_Silent_p.F249F|GRIK5_ENST00000301218.4_Silent_p.F249F	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	249						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCAGGATGGGGAAGTCCTGGG	0.587000													10	38					0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46500854	46500854	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:46500854G>A	ENST00000361297.2	+	29	4796	c.4513G>A	c.(4513-4515)Gag>Aag	p.E1505K	MAST2_ENST00000372009.2_Missense_Mutation_p.E1315K	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1505					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGACTCCTCAGAGGACGACAC	0.642000													3	23					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409097	105409097	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:105409097G>A	ENST00000333244.5	-	7	12810	c.12691C>T	c.(12691-12693)Ctc>Ttc	p.L4231F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4231						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)			GGGCCCTTGAGGGCCACTTTG	0.647000													90	180					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000													4	47					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244735753	244735753	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:244735753C>G	ENST00000366534.4	+	11	1683	c.1629C>G	c.(1627-1629)ttC>ttG	p.F543L	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.F543L|C1orf101_ENST00000366531.3_Missense_Mutation_p.F392L	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	543						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CATTCATTTTCTTAAGTACAT	0.318000													16	63					0	0	1	0	0
CCDC110	256309	broad.mit.edu	37	4	186380588	186380588	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:186380588G>T	ENST00000307588.3	-	6	1228	c.1153C>A	c.(1153-1155)Ctc>Atc	p.L385I	CCDC110_ENST00000510617.1_Missense_Mutation_p.L385I|CCDC110_ENST00000393540.3_Missense_Mutation_p.L348I	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	385						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		GTTTGGTCGAGGAAGGACAGT	0.303000													15	133					4.7546e-09	5.1035e-09	1	1	0
NSD1	64324	broad.mit.edu	37	5	176721872	176721872	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:176721872G>T	ENST00000439151.2	+	23	7548	c.7503G>T	c.(7501-7503)ccG>ccT	p.P2501P	NSD1_ENST00000361032.4_Silent_p.P2398P|NSD1_ENST00000347982.4_Silent_p.P2232P|NSD1_ENST00000354179.4_Silent_p.P2232P	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2501					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCATATGCCGAGAGCTGTTG	0.547000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			20	66					7.41877e-09	7.92895e-09	1	1	0
CGN	57530	broad.mit.edu	37	1	151491621	151491621	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:151491621G>A	ENST00000271636.7	+	2	759	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	203	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAACAGCGCAAACGGAGC	0.592000													4	164					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74742839	74742839	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:74742839G>A	ENST00000233638.7	+	2	803	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						GGAAGAAGCCGCGCACGTCCT	0.672000													9	45					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51852408	51852408	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:51852408G>A	ENST00000453097.2	+	7	1046	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	SLC4A8_ENST00000514353.3_Missense_Mutation_p.E224K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E224K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E304K|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E224K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	277					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AGTGAATTGTGAACATAGTCC	0.413000													28	54					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123072374	123072374	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:123072374C>T	ENST00000333479.7	+	39	4024	c.3847C>T	c.(3847-3849)Ctt>Ttt	p.L1283F	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1283					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTACCTGTCTTCAGCACTC	0.413000													16	16					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3296540	3296540	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:3296540C>T	ENST00000219596.1	-	6	1634	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	MEFV_ENST00000339854.4_Missense_Mutation_p.G352E|MEFV_ENST00000536379.1_Missense_Mutation_p.G321E|MEFV_ENST00000541159.1_Missense_Mutation_p.G321E	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	532					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAGATGTCTCCAATGTCCTA	0.552000													10	24					0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88451738	88451738	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:88451738G>A	ENST00000429277.2	+	7	1124	c.979G>A	c.(979-981)Gag>Aag	p.E327K	LDB3_ENST00000352360.5_Intron|LDB3_ENST00000458213.2_Missense_Mutation_p.E212K|LDB3_ENST00000372066.3_Missense_Mutation_p.E212K|LDB3_ENST00000263066.6_Missense_Mutation_p.E212K|LDB3_ENST00000361373.4_Missense_Mutation_p.E259K|LDB3_ENST00000310944.6_Missense_Mutation_p.E259K|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000372056.4_Missense_Mutation_p.E327K	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	326						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCAGAAGATGAGGCTGACGA	0.577000													6	46					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005179	248005179	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:248005179G>C	ENST00000355784.2	-	1	75	c.20C>G	c.(19-21)tCc>tGc	p.S7C		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGTCACAGTGGAGGTATTTTG	0.458000													4	28					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515209	44515209	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:44515209G>C	ENST00000429154.2	+	5	1246	c.1018G>C	c.(1018-1020)Gaa>Caa	p.E340Q		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CAATTGTAAAGAATGTGGGAA	0.428000													14	180					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703144	40703144	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:40703144G>A	ENST00000372771.4	+	8	2797	c.2770G>A	c.(2770-2772)Gat>Aat	p.D924N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	924					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AACTATGCAGGATGTATTGTT	0.378000													19	125					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120474858	120474858	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:120474858C>T	ENST00000354960.3	-	8	1562	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	PDE5A_ENST00000264805.5_Missense_Mutation_p.V373I|PDE5A_ENST00000394439.1_Missense_Mutation_p.V363I	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	415	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTATTTTTGACATACTGAGCA	0.358000													17	83					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203690464	203690464	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:203690464C>T	ENST00000357681.5	+	17	3861	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L	ATP2B4_ENST00000367218.3_Missense_Mutation_p.S913L|ATP2B4_ENST00000367219.3_Missense_Mutation_p.S901L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S913L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S913L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	913					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGATCTCACGCACTATG	0.517000													19	73					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101214545	101214545	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:101214545C>T	ENST00000369162.2	-	10	1977	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	ASCC3_ENST00000522650.1_Missense_Mutation_p.E545K	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	545	Helicase ATP-binding 1.				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)		TCTGTCATTTCAGCTGCCAAG	0.388000													12	58					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16916428	16916428	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:16916428C>T	ENST00000377833.4	-	58	9246	c.9181G>A	c.(9181-9183)Gat>Aat	p.D3061N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3061	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGTGCATATCATTTGGGTAG	0.423000													13	105					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20402630	20402630	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:20402630C>T	ENST00000381150.1	-	6	1220	c.830G>A	c.(829-831)cGc>cAc	p.R277H	SDC1_ENST00000254351.4_Missense_Mutation_p.R277H|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_Intron	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	277					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTTCTTCATGCGGTACAGCAT	0.597000													4	182					0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161087763	161087763	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:161087763C>T	ENST00000368010.3	-	1	138	c.54G>A	c.(52-54)aaG>aaA	p.K18K	PFDN2_ENST00000468311.1_5'UTR	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	18				SGAGKGAVS -> TPRRGRGRCP (in Ref. 2; AAD47084).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACACCGCCCCCTTCCCCGCGC	0.697000													12	92					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13370418	13370418	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:13370418G>C	ENST00000254508.5	-	31	4221	c.4139C>G	c.(4138-4140)tCc>tGc	p.S1380C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1380					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGGCTCATGGAAACCCTCAG	0.557000													4	47					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569259	5569259	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:5569259G>C	ENST00000331789.5	-	2	221	c.30C>G	c.(28-30)gtC>gtG	p.V10V		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	10					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGCCGTTGTCGACGACGAGCG	0.721000													6	39					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180093	65180093	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr18:65180093C>G	ENST00000310045.7	-	2	3256	c.1783G>C	c.(1783-1785)Gat>Cat	p.D595H	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	585						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCAATATGATCAACAACTAGC	0.358000													13	47					0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35915582	35915582	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:35915582G>A	ENST00000325722.3	-	15	2473	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.H184Y	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	747	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGGATAGGGTGATGGTCAGAG	0.463000													10	98					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939373	12939373	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:12939373G>C	ENST00000218032.6	+	2	2301	c.2214G>C	c.(2212-2214)ctG>ctC	p.L738L	TLR8_ENST00000311912.5_Silent_p.L756L	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	738					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|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						TCAGTAGTCTGAAGCACCTCG	0.423000													40	54					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933320	48933320	+	Silent	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:48933320T>G	ENST00000356463.3	-	9	1050	c.612A>C	c.(610-612)ccA>ccC	p.P204P	WDR45_ENST00000553851.1_Silent_p.P101P|WDR45_ENST00000396681.4_Silent_p.P203P|WDR45_ENST00000322995.8_Silent_p.P214P|WDR45_ENST00000485908.1_Silent_p.P168P|WDR45_ENST00000376372.3_Silent_p.P203P|WDR45_ENST00000473974.1_Silent_p.P203P|AF196779.12_ENST00000376358.3_Silent_p.P101P|WDR45_ENST00000376368.2_Silent_p.P204P	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	203					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTACAGTGCCTGGCTGGTTTA	0.562000													5	22					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135171384	135171384	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:135171384G>C	ENST00000372169.2	-	15	6163	c.5981C>G	c.(5980-5982)tCc>tGc	p.S1994C	SETX_ENST00000224140.5_Missense_Mutation_p.S1994C|SETX_ENST00000393220.1_Missense_Mutation_p.S1994C			Q7Z333	SETX_HUMAN	senataxin	1994					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTGGCATTGGAGTTTTCGTC	0.378000													22	55					0	0	1	0	0
PBX2	5089	broad.mit.edu	37	6	32155024	32155024	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:32155024G>C	ENST00000375050.4	-	6	1289	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	340							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCACCTGCAGAGGAAGGGGG	0.587000													15	18					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128734	147128734	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:147128734G>A	ENST00000282928.4	+	1	1564	c.835G>A	c.(835-837)Gag>Aag	p.E279K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	279					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GTGTCCGCGCGAGGGCAAGCC	0.587000													22	79					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566921	42566921	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:42566921C>T	ENST00000262895.3	-	3	330	c.331G>A	c.(331-333)Gga>Aga	p.G111R	GRIK5_ENST00000593562.1_Missense_Mutation_p.G111R|GRIK5_ENST00000301218.4_Missense_Mutation_p.G111R	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	111						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	TCCTTCTCTCCACAGATATGG	0.627000													21	55					0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975639	7975639	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:7975639G>A	ENST00000545011.1	+	6	817	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	MAP2K7_ENST00000397983.3_Missense_Mutation_p.R225Q|MAP2K7_ENST00000397979.3_Missense_Mutation_p.R209Q|MAP2K7_ENST00000397981.3_Missense_Mutation_p.R209Q			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	209	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CTCAAGAAGCGGATGCAGGGC	0.652000													3	9					0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67159898	67159898	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:67159898C>G	ENST00000219139.3	+	3	372	c.184C>G	c.(184-186)Cag>Gag	p.Q62E	C16orf70_ENST00000569600.1_Missense_Mutation_p.Q62E|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	62										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TAACCTGACTCAGGACGGGAT	0.378000													14	118					0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646056	228646056	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:228646056A>G	ENST00000369160.2	+	1	249	c.226A>G	c.(226-228)Agc>Ggc	p.S76G		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	76					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GCGCATCGCCAGCGAGGCCTC	0.632000													15	100					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285927	152285927	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:152285927C>G	ENST00000368799.1	-	3	1470	c.1435G>C	c.(1435-1437)Gac>Cac	p.D479H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	479	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCAGAGTCAGGCTGTTCA	0.617000									Ichthyosis				27	252					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903216	40903216	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:40903216C>A	ENST00000324001.7	-	7	1313	c.1043G>T	c.(1042-1044)gGa>gTa	p.G348V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	348					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCCTCTCCCCGGGCCTC	0.652000													11	53					3.86212e-05	3.97948e-05	1	1	0
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:155874261C>T	ENST00000368323.3	-	5	474	c.270G>A	c.(268-270)atG>atA	p.M90I	RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433000													7	53					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107880482	107880482	+	Missense_Mutation	SNP	C	C	A	rs144345929		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:107880482C>A	ENST00000379028.3	-	4	497	c.27G>T	c.(25-27)aaG>aaT	p.K9N	NRCAM_ENST00000379024.4_Missense_Mutation_p.K9N|NRCAM_ENST00000351718.4_Missense_Mutation_p.K9N|NRCAM_ENST00000413765.2_Missense_Mutation_p.K9N|NRCAM_ENST00000379022.4_Missense_Mutation_p.K9N|NRCAM_ENST00000425651.2_Missense_Mutation_p.K9N			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	9					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATAAGCGCTTCTTTTTCGGCA	0.408000													11	79					3.03607e-14	3.31612e-14	1	1	0
NEK1	4750	broad.mit.edu	37	4	170398311	170398311	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:170398311C>T	ENST00000439128.2	-	24	2954	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K	NEK1_ENST00000511633.1_Missense_Mutation_p.E756K|NEK1_ENST00000507142.1_Missense_Mutation_p.E800K|NEK1_ENST00000510533.1_Missense_Mutation_p.E728K|NEK1_ENST00000512193.1_Missense_Mutation_p.E703K	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	772					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AGTGTTAACTCATCCAGAGGA	0.348000													3	10					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109857353	109857353	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:109857353C>G	ENST00000256637.6	-	18	2356	c.2298G>C	c.(2296-2298)ttG>ttC	p.L766F	SORT1_ENST00000538502.1_Missense_Mutation_p.L629F	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	766					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGACCAGCATCAATCCCACGA	0.423000													5	36					0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75160076	75160076	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:75160076C>T	ENST00000526177.1	-	5	2124	c.246G>A	c.(244-246)gaG>gaA	p.E82E	GDPD5_ENST00000533784.1_Silent_p.E101E|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Silent_p.E101E|GDPD5_ENST00000533805.1_5'UTR|GDPD5_ENST00000529721.1_Silent_p.E220E|GDPD5_ENST00000336898.3_Silent_p.E220E			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	220					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGTCTTTCTTCTCCATGATGC	0.617000													5	12					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30698706	30698706	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:30698706C>T	ENST00000376389.3	-	9	1115	c.895G>A	c.(895-897)Gag>Aag	p.E299K	FLOT1_ENST00000456573.2_Missense_Mutation_p.E251K	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	299						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TTCTCTGCCTCGGCTAGGCGC	0.642000													19	67					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201440106	201440106	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:201440106C>G	ENST00000357799.4	+	8	3802	c.3704C>G	c.(3703-3705)tCa>tGa	p.S1235*		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1235					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAAAATAAGTCAGAAGATCTA	0.328000													19	86					0	0	1	0	0
WNT4	54361	broad.mit.edu	37	1	22456196	22456196	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:22456196C>G	ENST00000290167.6	-	2	269	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	WNT4_ENST00000542383.1_Missense_Mutation_p.E21Q	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	76					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGGCACTCCTCAATGGCCAGC	0.627000													13	37					0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15516473	15516473	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:15516473C>T	ENST00000424120.1	+	9	1115	c.861C>T	c.(859-861)ttC>ttT	p.F287F	CC2D2A_ENST00000389652.5_Silent_p.F238F|CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000503292.1_Silent_p.F287F|CC2D2A_ENST00000413206.1_Silent_p.F287F			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	287					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AAATGCTCTTCATACCCAGTA	0.423000													6	63					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178423598	178423598	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:178423598G>A	ENST00000448150.3	+	12	2790	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	RASAL2_ENST00000367649.3_Missense_Mutation_p.E676K|RASAL2_ENST00000462775.1_Missense_Mutation_p.E528K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	528					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TAACAAAGAGGAATACATGGC	0.363000													8	69					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50918042	50918042	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr18:50918042G>T	ENST00000442544.2	+	17	3089	c.2473G>T	c.(2473-2475)Gat>Tat	p.D825Y	DCC_ENST00000412726.1_Intron|DCC_ENST00000581580.1_Intron	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	825					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGACCCAGTTGATTATTATCC	0.423000													6	42					3.59834e-05	3.72828e-05	1	1	0
ARSK	153642	broad.mit.edu	37	5	94903650	94903650	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:94903650C>G	ENST00000380009.4	+	3	518	c.313C>G	c.(313-315)Cta>Gta	p.L105V		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	105						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)		TTTTAAGGGTCTAGATCCAAA	0.383000													9	36					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604224	189604224	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:189604224C>T	ENST00000264731.3	+	11	1480	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	TP63_ENST00000456148.1_Missense_Mutation_p.P366L|TP63_ENST00000382063.4_Missense_Mutation_p.P379L|TP63_ENST00000392463.2_Missense_Mutation_p.P370L|TP63_ENST00000392460.3_Missense_Mutation_p.P464L|TP63_ENST00000449992.1_Missense_Mutation_p.P285L|TP63_ENST00000354600.5_Missense_Mutation_p.P370L|TP63_ENST00000320472.5_Missense_Mutation_p.P464L|TP63_ENST00000440651.2_Missense_Mutation_p.P460L|TP63_ENST00000392461.3_Missense_Mutation_p.P370L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	464					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|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)		AACAGCTCCCCACCTCTGAAC	0.478000										HNSCC(45;0.13)			17	51					0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864723	6864723	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:6864723C>G	ENST00000307659.5	+	7	3069	c.2614C>G	c.(2614-2616)Cag>Gag	p.Q872E	KIAA0232_ENST00000425103.1_Missense_Mutation_p.Q872E	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	872							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GGAGACCCTTCAGGAGCCTGA	0.468000													13	61					0	0	1	0	0
CCND1	595	broad.mit.edu	37	11	69462782	69462782	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:69462782C>T	ENST00000227507.2	+	4	822	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CCND1_ENST00000536559.1_3'UTR	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	199					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CATTTCCAATCCGCCCTCCAT	0.622000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			19	55					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891250	4891250	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:4891250C>T	ENST00000381781.2	-	3	836	c.837G>A	c.(835-837)gtG>gtA	p.V279V		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	279					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGCTGCTGCTCACGGACAGCA	0.617000													13	57					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577281	9577281	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:9577281G>C	ENST00000301480.4	-	10	2555	c.2342C>G	c.(2341-2343)tCa>tGa	p.S781*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AATACGAGCTGAGAAAGAAGC	0.433000													12	79					0	0	1	0	0
HOMEZ	57594	broad.mit.edu	37	14	23746199	23746199	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:23746199G>T	ENST00000357460.5	-	2	402	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	HOMEZ_ENST00000431326.2_Missense_Mutation_p.P82T|HOMEZ_ENST00000561013.1_Missense_Mutation_p.P82T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GCTAGGCTGGGATAGGGAAAG	0.517000													19	44					8.00594e-06	8.40004e-06	1	1	0
OGDH	4967	broad.mit.edu	37	7	44714014	44714014	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:44714014G>C	ENST00000222673.5	+	7	835	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	OGDH_ENST00000543843.1_Missense_Mutation_p.E216Q|OGDH_ENST00000447398.1_Missense_Mutation_p.E276Q|OGDH_ENST00000449767.1_Missense_Mutation_p.E261Q|OGDH_ENST00000439616.2_Missense_Mutation_p.E115Q|OGDH_ENST00000443864.2_Missense_Mutation_p.E265Q|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000444676.1_Missense_Mutation_p.E280Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	265					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GTCCAGGTTTGAGGAGTTCCT	0.532000													22	72					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980087	120980087	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:120980087G>A	ENST00000392793.1	+	4	637	c.366G>A	c.(364-366)ttG>ttA	p.L122L	TECTA_ENST00000264037.2_Silent_p.L122L			O75443	TECTA_HUMAN	tectorin alpha	122	NIDO.				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)		CTGCCATCTTGAAAAGAGCCA	0.488000													5	58					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64588242	64588242	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:64588242G>A	ENST00000311915.8	-	3	745	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	C12orf66_ENST00000544871.1_Silent_p.L187L|C12orf66_ENST00000398055.3_Silent_p.L240L			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	240										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCTCCAAACAGATGTTTCTTG	0.483000													24	43					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3196189	3196189	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:3196189C>T	ENST00000398659.4	-	9	1206	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.E329K			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	329							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CCTTACTTCTCTTCAGAACGG	0.557000													8	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			16	36					0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28206339	28206339	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:28206339C>A	ENST00000344423.5	-	10	1570	c.1439G>T	c.(1438-1440)cGa>cTa	p.R480L	ZNF395_ENST00000523202.1_Missense_Mutation_p.R480L|ZNF395_ENST00000523095.1_Missense_Mutation_p.R480L	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	480					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGCCTCCCCTCGGGCTTTCCT	0.622000													6	29					0.0215528	0.0217569	1	1	0
SPEN	23013	broad.mit.edu	37	1	16257938	16257938	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:16257938C>T	ENST00000375759.3	+	11	5407	c.5203C>T	c.(5203-5205)Cct>Tct	p.P1735S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1735					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA 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)		GGATGCCAAGCCTCCAACTCC	0.577000													28	161					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19258590	19258590	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:19258590C>T	ENST00000602424.2	-	6	1036	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	MEF2B_ENST00000409447.2_Missense_Mutation_p.E104K|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.E121K|MEF2B_ENST00000424583.2_Missense_Mutation_p.E104K|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.E104K|MEF2B_ENST00000410050.1_Missense_Mutation_p.E104K|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.E104K|MEF2B_ENST00000409224.1_Missense_Mutation_p.E107K	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TCAGGCCCTTCATCCGGCTCC	0.642000													4	24					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082642	152082642	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:152082642C>G	ENST00000368804.1	-	2	3050	c.3051G>C	c.(3049-3051)gaG>gaC	p.E1017D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1017	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTActgcctctcccactcct	0.562000													28	181					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173356197	173356197	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:173356197C>T	ENST00000375221.2	+	24	3254	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	ITGA6_ENST00000409532.1_Silent_p.F859F|ITGA6_ENST00000343713.4_Silent_p.F973F|ITGA6_ENST00000409080.1_Silent_p.F978F|ITGA6_ENST00000264107.7_Silent_p.F978F|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Silent_p.F1017F			P23229	ITA6_HUMAN	integrin, alpha 6	1017					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGCGAGCCTTCATTGATGTGA	0.458000													8	45					0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020662	112020662	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:112020662G>C	ENST00000343534.5	+	6	635	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Missense_Mutation_p.E104Q	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	129						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAACTCTCAGAAGAAAAGAG	0.433000													4	85					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657366	46657366	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:46657366G>C	ENST00000544460.1	+	1	1755	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.E501Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	501					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.E501K(1)		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)			AAATCCTTCTGAGTTTTGGAT	0.413000													11	124					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109702956	109702956	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:109702956G>C	ENST00000338432.7	+	51	7103	c.6984G>C	c.(6982-6984)tgG>tgC	p.W2328C	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.W2328C|ACACB_ENST00000377854.5_Missense_Mutation_p.W2258C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2328					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTGTATTGGCGTCTGCGCC	0.627000													15	102					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2203392	2203392	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:2203392G>A	ENST00000210187.6	+	9	901	c.741G>A	c.(739-741)gaG>gaA	p.E247E	RAB26_ENST00000541451.1_Silent_p.E181E	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	247					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						TTAAGAGGGAGGGTCGAGGGG	0.642000													7	47					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189604229	189604229	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:189604229C>T	ENST00000264731.3	+	11	1485	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	TP63_ENST00000456148.1_Silent_p.L368L|TP63_ENST00000382063.4_Silent_p.L381L|TP63_ENST00000392463.2_Silent_p.L372L|TP63_ENST00000392460.3_Silent_p.L466L|TP63_ENST00000449992.1_Silent_p.L287L|TP63_ENST00000354600.5_Silent_p.L372L|TP63_ENST00000320472.5_Silent_p.L466L|TP63_ENST00000440651.2_Silent_p.L462L|TP63_ENST00000392461.3_Silent_p.L372L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	466					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|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)		CTCCCCACCTCTGAACAAAAT	0.488000										HNSCC(45;0.13)			15	51					0	0	1	0	0
MUL1	79594	broad.mit.edu	37	1	20827204	20827204	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:20827204C>T	ENST00000264198.3	-	4	1174	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	346					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		ACAGGGGTATCACCCGGGTGA	0.562000													13	70					0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254163	44254163	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:44254163C>T	ENST00000371505.4	-	3	506	c.384G>A	c.(382-384)gaG>gaA	p.E128E	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	128										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCCAGTAGTTCTCACTGTCTA	0.607000													15	110					0	0	1	0	0
FOXL1	2300	broad.mit.edu	37	16	86612650	86612650	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:86612650C>T	ENST00000320241.3	+	1	536	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	107					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ACGACTGCTTCGTCAAGGTGC	0.632000													26	87					0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129041400	129041400	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:129041400G>C	ENST00000394422.3	+	2	112	c.84G>C	c.(82-84)ttG>ttC	p.L28F	UTP14A_ENST00000425117.2_Missense_Mutation_p.L28F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_5'UTR	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	28					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						actacctcttgagtgagagtg	0.438000													7	23					0	0	1	0	0
SNHG11	128439	broad.mit.edu	37	20	37076785	37076785	+	RNA	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:37076785G>A	ENST00000365032.1	+	0	59																											AGTGCAGGCAGAGGAAATGCG	0.552000													22	125					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77894753	77894753	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:77894753G>C	ENST00000553888.1	-	19	1931	c.1421C>G	c.(1420-1422)tCa>tGa	p.S474*	VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.S474*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.S461*|VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.S474*|VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.S425*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.S500*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CTCCTCTGCTGATCCTTTATC	0.478000													4	39					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768737	31768737	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:31768737G>A	ENST00000240587.4	-	2	2289	c.1962C>T	c.(1960-1962)atC>atT	p.I654I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	654					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTCCATCTTGATGGGTTCCC	0.657000													6	17					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15180012	15180012	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:15180012C>G	ENST00000198767.6	-	5	529	c.446G>C	c.(445-447)aGc>aCc	p.S149T	PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000540462.1_5'UTR|RRN3_ENST00000563559.1_Missense_Mutation_p.S149T|RRN3_ENST00000564131.1_Missense_Mutation_p.S149T|RRN3_ENST00000327307.7_Missense_Mutation_p.S116T|RRN3_ENST00000429751.2_Missense_Mutation_p.S119T	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	149					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						AGCAATCATGCTGAGACACGG	0.358000													4	28					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818000	55818000	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:55818000G>C	ENST00000313833.4	+	2	1137	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.E298Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	298										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGGCCAGCGTGAGCCTGGGAG	0.527000													12	82					0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101574680	101574680	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:101574680G>A	ENST00000326172.5	+	9	1873	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	NFKBIZ_ENST00000394054.2_Silent_p.L486L|NFKBIZ_ENST00000326151.5_Silent_p.L464L	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	586	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						AGCTTTTACTGAAGAATAAGA	0.453000													6	67					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	898782	898782	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:898782C>G	ENST00000338591.3	+	8	1360	c.1253C>G	c.(1252-1254)cCg>cGg	p.P418R		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	418	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTGGCAGCCGGAGGTGTCC	0.627000													4	39					0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21024679	21024679	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:21024679C>A	ENST00000557068.1	-	4	2275	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	RNASE9_ENST00000555230.1_Missense_Mutation_p.D184Y|RNASE9_ENST00000338904.3_Missense_Mutation_p.D184Y|RNASE9_ENST00000429244.2_Missense_Mutation_p.D184Y|RNASE9_ENST00000553706.1_Missense_Mutation_p.D189Y|RNASE9_ENST00000553541.1_Missense_Mutation_p.D184Y|RNASE9_ENST00000557209.1_Missense_Mutation_p.D189Y|RNASE9_ENST00000554964.1_Missense_Mutation_p.D184Y|RNASE9_ENST00000556208.1_Missense_Mutation_p.D189Y|RNASE9_ENST00000404716.3_Missense_Mutation_p.D189Y			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	184						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TCCACGAGATCATTTATAGTA	0.448000													12	28					3.07112e-06	3.23595e-06	1	1	0
SLC26A8	116369	broad.mit.edu	37	6	35919244	35919244	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:35919244C>G	ENST00000490799.1	-	18	2618	c.2265G>C	c.(2263-2265)ttG>ttC	p.L755F	SLC26A8_ENST00000394602.2_Missense_Mutation_p.L650F|SLC26A8_ENST00000355574.2_Missense_Mutation_p.L755F	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	755	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CAATGAGTATCAAAATGTTGG	0.463000													5	58					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102379093	102379093	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:102379093G>C	ENST00000376131.4	-	4	586	c.491C>G	c.(490-492)tCc>tGc	p.S164C	FGF14_ENST00000376143.4_Missense_Mutation_p.S159C	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	159					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACAACATGGATGAGTAGAT	0.358000													17	46					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65574311	65574311	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:65574311C>T	ENST00000580974.1	+	5	1000	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	PITPNC1_ENST00000335257.6_Silent_p.L102L|PITPNC1_ENST00000581322.1_Silent_p.L102L|PITPNC1_ENST00000299954.9_Silent_p.L102L	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	102					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GTGTTCCTTTCTGCCGAAATT	0.438000													3	20					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1294389	1294389	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:1294389G>C	ENST00000310581.5	-	2	669	c.612C>G	c.(610-612)aaC>aaG	p.N204K	TERT_ENST00000296820.5_Missense_Mutation_p.N204K|TERT_ENST00000508104.2_Missense_Mutation_p.N204K|TERT_ENST00000334602.6_Missense_Mutation_p.N204K	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	204	RNA-interacting domain 1.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGACGCTATGGTTCCAGGCCC	0.746000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				4	20					0	0	1	0	0
IFNA1	3439	broad.mit.edu	37	9	21441057	21441057	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:21441057G>C	ENST00000276927.1	+	1	618	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_024013.2	NP_076918.1	P01562	IFNA1_HUMAN	interferon, alpha 1	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)	7				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TTGCAAGAAAGATTAAGGAGG	0.403000													62	93					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60879544	60879544	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:60879544G>C	ENST00000253003.2	+	3	287	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	ADRM1_ENST00000462554.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	81	Interaction with PSMD1.|PH.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TGACGACTGTGAGTTCAAGCG	0.592000													9	19					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813845	60813845	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:60813845G>C	ENST00000544856.2	-	7	1759	c.1381C>G	c.(1381-1383)Cca>Gca	p.P461A	MARCH10_ENST00000311269.5_Missense_Mutation_p.P462A|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.P500A|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.P462A			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	462							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GATGATCTTGGAGATATTGGT	0.398000													14	70					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733613	152733613	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:152733613G>A	ENST00000368773.1	+	2	1607	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	KPRP_ENST00000606109.1_Missense_Mutation_p.E517K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	517						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCTGTCATGAGTCTAGTCC	0.627000													21	46					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19218746	19218746	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:19218746G>C	ENST00000318596.7	+	7	692	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	181					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CTCGAGAGAAGAGGGGCTGAA	0.567000													27	92					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55748262	55748262	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:55748262C>G	ENST00000395863.3	-	6	1645	c.1140G>C	c.(1138-1140)caG>caC	p.Q380H	BMP7_ENST00000450594.2_Missense_Mutation_p.Q380H|BMP7_ENST00000395864.3_Missense_Mutation_p.Q314H|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	380					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCACCAGCGTCTGCACGATGG	0.642000													9	29					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40840572	40840572	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:40840572G>C	ENST00000264638.4	+	9	1616	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	467	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGAAGGGGCAGAGGTCAGGGT	0.532000													17	83					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28788910	28788910	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:28788910C>T	ENST00000225719.4	+	19	3722	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y	CPD_ENST00000543464.2_Missense_Mutation_p.H969Y	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1216	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CAAGGGAGTTCATGGATTTGT	0.353000													6	93					0	0	1	0	0
ADIG	149685	broad.mit.edu	37	20	37214718	37214718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:37214718G>A	ENST00000537425.1	+	2	227	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	57					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				GGGAGCCCTGGAGCAAAGGCC	0.582000													7	7					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43008116	43008116	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:43008116C>T	ENST00000535468.1	-	22	4410	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1358K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1358					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCCCCAGCTTCCTCTTCCTTC	0.597000													4	44					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867673	45867673	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:45867673G>T	ENST00000311275.7	-	15	2687	c.2434C>A	c.(2434-2436)Ccg>Acg	p.P812T	ZMYND8_ENST00000355972.4_Missense_Mutation_p.P812T|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.P807T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P832T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.P749T|ZMYND8_ENST00000540497.1_Missense_Mutation_p.P760T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.P812T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P839T|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P832T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Missense_Mutation_p.P807T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P812T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.P832T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	812							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGCACGGCCGGGGCAGTCTCC	0.617000													16	138					1.15088e-07	1.22127e-07	1	1	0
DPY19L3	147991	broad.mit.edu	37	19	32954392	32954392	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:32954392G>A	ENST00000342179.5	+	13	1658	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.M481I|DPY19L3_ENST00000586987.1_Missense_Mutation_p.M481I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	481						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					TGAGTACAATGAGGTATTTTT	0.338000													27	59					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48925174	48925174	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:48925174G>C	ENST00000263269.3	+	10	2312	c.2224G>C	c.(2224-2226)Gag>Cag	p.E742Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	742						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCCCCGCGTAGAGGAAGCGCT	0.632000													8	46					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169279368	169279368	+	Missense_Mutation	SNP	T	T	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:169279368T>A	ENST00000511577.1	-	38	5298	c.5051A>T	c.(5050-5052)cAa>cTa	p.Q1684L	DDX60L_ENST00000260184.7_Missense_Mutation_p.Q1684L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1684							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTGACTCAATTGTTTAAATGC	0.303000													18	19					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347550	71347550	+	Missense_Mutation	SNP	G	G	A	rs149873135		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:71347550G>A	ENST00000413702.1	+	4	1377	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	MUC7_ENST00000456088.1_Missense_Mutation_p.M363I|MUC7_ENST00000304887.5_Missense_Mutation_p.M363I	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	363						extracellular region	protein binding	p.M363I(1)		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)			TTTTATATATGAAGAATCTAC	0.348000													6	55					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717581	13717581	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:13717581G>T	ENST00000265104.4	-	73	12652	c.12548C>A	c.(12547-12549)cCc>cAc	p.P4183H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4183	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTACAGCATGGGCTTCCACTG	0.527000									Kartagener syndrome				5	42					0.0215528	0.0217569	1	1	0
SARNP	84324	broad.mit.edu	37	12	56188160	56188160	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:56188160G>C	ENST00000546837.1	-	12	1325	c.1326C>G	c.(1324-1326)ttC>ttG	p.F442L	SARNP_ENST00000444631.2_Missense_Mutation_p.S70C|SARNP_ENST00000552080.1_Missense_Mutation_p.S130C|SARNP_ENST00000336133.3_Missense_Mutation_p.S130C																							TGGAACTGAAGAAATCCCAAA	0.343000													33	178					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	992641	992641	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:992641A>C	ENST00000448903.2	+	11	1549	c.1408A>C	c.(1408-1410)Aac>Cac	p.N470H	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Missense_Mutation_p.N471H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	470					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GATCGTCATCAACCGGGACGA	0.552000													4	24					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57974944	57974944	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:57974944C>G	ENST00000455537.2	+	24	3018	c.2744C>G	c.(2743-2745)tCt>tGt	p.S915C	KIF5A_ENST00000286452.5_Missense_Mutation_p.S826C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	915	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGGGGCCATTCTGCCCAGATT	0.537000													5	16					0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53553815	53553815	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:53553815C>G	ENST00000371494.4	-	11	1676	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	517						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	TCGGAGGCCTCGGCTACACTC	0.632000													8	43					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61495696	61495696	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:61495696C>T	ENST00000257215.5	+	7	824	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	236					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATCCGACATCATTGCTGGCC	0.622000													14	71					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66131895	66131895	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:66131895G>C	ENST00000357440.2	-	11	1288	c.1060C>G	c.(1060-1062)Cca>Gca	p.P354A	SLC29A2_ENST00000546034.1_Splice_Site_p.P354A|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_Splice_Site_p.A309G|SLC29A2_ENST00000544554.1_Splice_Site_p.P354A	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	354					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TCCTCGTCTGGCTGTGGTAGA	0.577000													3	16					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92264744	92264744	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:92264744C>G	ENST00000435962.2	-	7	961		c.e7-1		TC2N_ENST00000556018.1_Splice_Site|TC2N_ENST00000360594.5_Splice_Site|TC2N_ENST00000340892.5_Splice_Site	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear							nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTAATTGTATCTGAATTATAA	0.328000													7	78					0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38301406	38301406	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:38301406C>T	ENST00000373036.4	-	5	930	c.790G>A	c.(790-792)Gat>Aat	p.D264N		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	264						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCACAGCCATCGTGATCGCAC	0.398000													19	67					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149953935	149953935	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:149953935C>G	ENST00000367411.2	-	3	538	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	KATNA1_ENST00000335647.5_Missense_Mutation_p.E94Q|KATNA1_ENST00000335643.8_Missense_Mutation_p.E94Q	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	94	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ACTTCTCCCTCAGAAGCTGGA	0.418000													14	44					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074892	34074892	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:34074892C>T	ENST00000254466.6	-	4	835	c.808G>A	c.(808-810)Gac>Aac	p.D270N	GAS2L2_ENST00000587565.1_Missense_Mutation_p.D254N	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	270	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CGGCAGGGGTCATGTTTGTCC	0.622000											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	45					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077782	57077782	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:57077782C>T	ENST00000532437.1	-	5	2714	c.2403G>A	c.(2401-2403)atG>atA	p.M801I	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.M801I|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	801	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)				TGCTGGCCTCCATCTCCTCCT	0.637000													11	105					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413806	57413806	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:57413806G>C	ENST00000524669.1	-	4	2980	c.258C>G	c.(256-258)ttC>ttG	p.F86L	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.F86L|YPEL4_ENST00000544993.1_Missense_Mutation_p.F86L|YPEL4_ENST00000534711.1_Missense_Mutation_p.F86L			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	86						nucleolus				lung(2)|skin(1)	3						AGCTCTCACAGAAAATGTCAG	0.567000													9	54					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198186	20198186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:20198186C>A	ENST00000400331.5	-	5	2106	c.1798G>T	c.(1798-1800)Gga>Tga	p.G600*	MACC1_ENST00000589011.1_Nonsense_Mutation_p.G600*|MACC1_ENST00000332878.4_Nonsense_Mutation_p.G600*	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	600	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						CTGAGGACTCCTACATACCAT	0.398000													16	142					7.45023e-12	8.10185e-12	1	1	0
RNF130	55819	broad.mit.edu	37	5	179405246	179405246	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:179405246C>T	ENST00000522208.2	-	5	823	c.805G>A	c.(805-807)Gag>Aag	p.E269K	RNF130_ENST00000261947.4_Missense_Mutation_p.E269K|RNF130_ENST00000521389.1_Missense_Mutation_p.E269K			Q86XS8	GOLI_HUMAN	ring finger protein 130	269					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTATAGCTCTCTATGCAGACT	0.388000													15	51					0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2752807	2752807	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:2752807C>T	ENST00000515640.1	+	2	291	c.272C>T	c.(271-273)cCc>cTc	p.P91L	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000397835.4_Missense_Mutation_p.P91L|C5orf38_ENST00000457752.2_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.P91L|C5orf38_ENST00000334000.3_Missense_Mutation_p.P91L			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	91						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CTGAAGCCTCCCAGTCACGTC	0.567000													17	146					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744824	62744824	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:62744824C>G	ENST00000377871.3	-	9	1663	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	466					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGCCCACTCGGGCCATGGT	0.622000													5	27					0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203276389	203276389	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:203276389G>C	ENST00000290551.4	+	2	371	c.300G>C	c.(298-300)ctG>ctC	p.L100L		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	100					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCAGCGAGCTGACCCTGTGGG	0.647000													8	31					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670472	127670472	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:127670472G>C	ENST00000249363.3	-	2	479	c.222C>G	c.(220-222)ccC>ccG	p.P74P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	74	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTGTTCGAGGGAATACCCT	0.637000													8	79					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18906868	18906868	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:18906868C>T	ENST00000388995.6	-	2	710	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E163K|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E163K|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	163										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCACCACCTCTTTGATGTGG	0.662000													13	14					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112451348	112451348	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:112451348C>G	ENST00000261735.3	+	1	229	c.79C>G	c.(79-81)Ccg>Gcg	p.P27A	ERP29_ENST00000455836.1_Missense_Mutation_p.P27A	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	27					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCTCTCCGCTCCGCATGGCGG	0.692000													5	26					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87660077	87660077	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:87660077G>A	ENST00000320005.5	-	8	989	c.942C>T	c.(940-942)taC>taT	p.Y314Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	314					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						CAAAGAAGAGGTAGCAAATAT	0.313000													55	109					0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130839546	130839546	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:130839546C>T	ENST00000245255.3	+	11	1557	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	429					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.H429Y(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGATTACATTCATAAGTAAGT	0.403000													71	89					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41481804	41481804	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:41481804C>G	ENST00000359345.1	-	4	3774	c.1198G>C	c.(1198-1200)Gtg>Ctg	p.V400L	SLFNL1_ENST00000372613.2_Missense_Mutation_p.V352L|SLFNL1_ENST00000302946.8_Missense_Mutation_p.V400L|SLFNL1_ENST00000439569.2_Missense_Mutation_p.V400L|SLFNL1_ENST00000372611.1_Missense_Mutation_p.V341L|SLFNL1_ENST00000397197.2_Missense_Mutation_p.V352L	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	400							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GTGCAGGACACAGGCCCGTGC	0.617000													20	78					0	0	1	0	0
GPR161	23432	broad.mit.edu	37	1	168073912	168073912	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:168073912G>A	ENST00000367838.1	-	4	490	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GPR161_ENST00000367835.1_Silent_p.L59L|GPR161_ENST00000271357.5_Silent_p.L59L|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Silent_p.L79L|GPR161_ENST00000546300.1_Intron|GPR161_ENST00000361697.2_Silent_p.L59L|GPR161_ENST00000539777.1_Intron	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	59					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					TGCTGAGGGTGAGGAGGTAGG	0.517000													14	65					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091315	36091315	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:36091315C>G	ENST00000313548.4	+	4	436	c.250C>G	c.(250-252)Cat>Gat	p.H84D		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		AGAGGAAGATCATGGGTCTCT	0.373000													9	34					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692298	6692298	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:6692298G>T	ENST00000309577.6	-	26	4289	c.4126C>A	c.(4126-4128)Ctg>Atg	p.L1376M	CHD4_ENST00000357008.2_Intron|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000540960.1_Intron|CHD4_ENST00000544484.1_Missense_Mutation_p.L1373M|CHD4_ENST00000544040.1_Intron			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1353					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AGAGAGGGCAGATGAGCGGGG	0.602000													11	73					7.03913e-09	7.54481e-09	1	1	0
ZBTB37	84614	broad.mit.edu	37	1	173840114	173840114	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:173840114G>C	ENST00000367701.5	+	2	942	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	ZBTB37_ENST00000367704.1_Missense_Mutation_p.E251Q|ZBTB37_ENST00000427304.1_Missense_Mutation_p.E251Q|ZBTB37_ENST00000367702.1_Missense_Mutation_p.E251Q|ZBTB37_ENST00000432989.1_Missense_Mutation_p.E251Q			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						TGAAAATCTGGAGGAGTGGCT	0.512000													7	64					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389413	129389413	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:129389413G>C	ENST00000393238.3	-	4	1611	c.1271C>G	c.(1270-1272)tCt>tGt	p.S424C	TMCC1_ENST00000329333.5_Missense_Mutation_p.S245C|TMCC1_ENST00000432054.2_Missense_Mutation_p.S100C|TMCC1_ENST00000426664.2_Missense_Mutation_p.S310C	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	424						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGTGGCACTAGAACAATCTTC	0.507000													23	90					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641837	99641837	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:99641837G>A	ENST00000345514.2	-	3	1389	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	BCL11B_ENST00000357195.3_Missense_Mutation_p.R446W|BCL11B_ENST00000443726.2_Missense_Mutation_p.R252W	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	446						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGACTGCGCCGGTGCACGATG	0.652000			T	TLX3	T-ALL								5	30					0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115758	61115758	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:61115758G>C	ENST00000247182.6	-	1	422	c.150C>G	c.(148-150)ctC>ctG	p.L50L	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	50					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CCTTGGCCTTGAGTACGCTCT	0.622000													18	99					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165692	185165692	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:185165692G>C	ENST00000265026.3	+	5	1301	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	MAP3K13_ENST00000443863.1_Missense_Mutation_p.E179Q|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E179Q|MAP3K13_ENST00000446828.1_Missense_Mutation_p.E116Q|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E323Q	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	323	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			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)			GATGGCGCCAGAGGTGATACG	0.453000													11	41					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17394829	17394829	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:17394829A>C	ENST00000380647.3	+	15	2461	c.2377A>C	c.(2377-2379)Aac>Cac	p.N793H	CNTLN_ENST00000425824.1_Missense_Mutation_p.N793H|CNTLN_ENST00000262360.5_Missense_Mutation_p.N793H			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	793						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAGCTGATCAACCCAATGGA	0.433000													22	37					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169028327	169028327	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:169028327C>T	ENST00000265295.4	+	11	1647	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GTGAGGTGCTCCCTGTGGATA	0.443000													4	27					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49867149	49867149	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:49867149C>T	ENST00000331456.2	-	13	1250	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E	TRAIP_ENST00000469027.1_Silent_p.E224E	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	379	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACCAGTTCCTCATCTGGCT	0.572000													8	27					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121747	30121747	+	Nonstop_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:30121747C>G	ENST00000449742.2	-	7	1520	c.1445G>C	c.(1444-1446)tGa>tCa	p.*482S	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	0						cytoplasm	zinc ion binding			ovary(1)	1						TGCTCCTTCTCAGGAGCTCAG	0.527000													8	64					0	0	1	0	0
GOLPH3L	55204	broad.mit.edu	37	1	150667281	150667281	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:150667281C>G	ENST00000271732.3	-	2	78	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	GOLPH3L_ENST00000540514.1_Missense_Mutation_p.E12Q|GOLPH3L_ENST00000479757.1_5'UTR	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	12						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)			TTGCTTATTTCAGTGCGACGG	0.403000													6	106					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164756908	164756908	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:164756908C>T	ENST00000264382.3	-	20	2321	c.2259G>A	c.(2257-2259)gtG>gtA	p.V753V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	753	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|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)	TGTAGGCACTCACAGTATCTG	0.294000										HNSCC(35;0.089)			9	57					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91934652	91934652	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:91934652G>A	ENST00000375807.3	+	2	193	c.122G>A	c.(121-123)tGt>tAt	p.C41Y	SECISBP2_ENST00000534113.2_5'UTR|SECISBP2_ENST00000339901.4_Missense_Mutation_p.M8I	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	41					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCAGAAGCATGTGTCTTCCCC	0.458000													56	76					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601638	58601638	+	Silent	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:58601638T>C	ENST00000600404.1	-	2	194	c.165A>G	c.(163-165)ggA>ggG	p.G55G	ZSCAN18_ENST00000601144.1_5'UTR|ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000240727.6_5'UTR	NM_001145542.1	NP_001139014.1	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	0	SCAN box.				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)		GCAACATCTTTCCAAAACGGC	0.622000													11	51					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100280056	100280056	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:100280056C>T	ENST00000275732.5	-	21	3859	c.2650G>A	c.(2650-2652)Gaa>Aaa	p.E884K		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	884										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTCTTCTTCCTCCGTCTTT	0.617000													10	50					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029944	32029944	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:32029944G>T	ENST00000375244.3	-	20	7359	c.7158C>A	c.(7156-7158)atC>atA	p.I2386I	TNXB_ENST00000375247.2_Silent_p.I2386I			P22105	TENX_HUMAN	tenascin XB	2448	Fibronectin type-III 16.				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						CTGTCACCCCGATGGCAGACA	0.627000													4	29					0.00909568	0.00920675	1	1	0
IKBIP	121457	broad.mit.edu	37	12	99020352	99020352	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:99020352C>G	ENST00000299157.4	-	3	863	c.490G>C	c.(490-492)Gaa>Caa	p.E164Q	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	166					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTCATTTCTTCTAGGCTTCTC	0.333000													22	42					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55236912	55236912	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:55236912G>C	ENST00000251091.5	+	7	1728	c.1423G>C	c.(1423-1425)Gac>Cac	p.D475H	SAMD4A_ENST00000357634.3_Missense_Mutation_p.D562H|SAMD4A_ENST00000555192.1_Missense_Mutation_p.D154H|SAMD4A_ENST00000392067.3_Missense_Mutation_p.D563H|SAMD4A_ENST00000554335.1_Missense_Mutation_p.D563H	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	563					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AACCCTTCTAGACATATCAGG	0.453000													11	96					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6620279	6620279	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:6620279G>A	ENST00000321612.6	-	3	525	c.375C>T	c.(373-375)agC>agT	p.S125S		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	125					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCTGGTTTTTGCTTGAAATGG	0.403000													34	34					0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887135	27887135	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:27887135G>T	ENST00000326019.6	+	1	798	c.516G>T	c.(514-516)ctG>ctT	p.L172L		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	172						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TAGAGACCCTGAAGGGCGGCA	0.647000													11	42					3.86212e-05	3.97948e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9008284	9008284	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:9008284G>C	ENST00000397910.4	-	41	39471	c.39268C>G	c.(39268-39270)Caa>Gaa	p.Q13090E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13092	SEA 7.				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						CCAGGGCTTTGAGGGTTAAGG	0.567000													18	88					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49721000	49721000	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:49721000C>T	ENST00000551245.1	+	8	889	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	TROAP_ENST00000257909.3_Missense_Mutation_p.L260F|TROAP_ENST00000547923.1_5'UTR			Q12815	TROAP_HUMAN	trophinin associated protein	260					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						AGCTTTCTCTCTTCCTAAAGG	0.458000													17	78					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437282	437282	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:437282C>T	ENST00000338977.5	-	2	986	c.938G>A	c.(937-939)aGa>aAa	p.R313K	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.R325K|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						AGTATGAATTCTCCTATGTAC	0.413000													7	79					0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24668758	24668758	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:24668758G>T	ENST00000361548.4	+	9	1431	c.1201G>T	c.(1201-1203)Gac>Tac	p.D401Y	GRHL3_ENST00000350501.5_Missense_Mutation_p.D401Y|GRHL3_ENST00000236255.4_Missense_Mutation_p.D406Y|GRHL3_ENST00000342072.4_Missense_Mutation_p.D308Y|GRHL3_ENST00000356046.2_Missense_Mutation_p.D355Y	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	401					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATCTTCTGTGACAAGGTGGC	0.587000													4	56					0.0581538	0.0585462	1	1	0
SMAD3	4088	broad.mit.edu	37	15	67479782	67479782	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:67479782C>T	ENST00000327367.4	+	8	1399	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	SMAD3_ENST00000537194.2_Silent_p.V168V|SMAD3_ENST00000439724.3_Silent_p.V319V|SMAD3_ENST00000540846.2_Silent_p.V258V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	363	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TTGAGGCTGTCTACCAGTTGA	0.557000													30	47					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059798	49059798	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:49059798C>G	ENST00000326925.6	+	2	1231	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	NDUFAF3_ENST00000395458.2_5'UTR|NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000451378.2_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	33					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GCGAGGGCATCGGCTCTCGCC	0.716000													5	34					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156908293	156908293	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:156908293C>A	ENST00000368194.3	-	38	5148	c.4109G>T	c.(4108-4110)gGc>gTc	p.G1370V	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.G746V|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.G1330V	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1330					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			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)					AACCTTGCTGCCTGCCACCTC	0.567000													5	106					3.59834e-05	3.72828e-05	1	1	0
LSAMP	4045	broad.mit.edu	37	3	115738453	115738453	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:115738453G>A	ENST00000490035.2	-	3	922	c.423C>T	c.(421-423)gtC>gtT	p.V141V	LSAMP_ENST00000539563.1_Silent_p.V138V|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		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)		CATTCACAGTGACATCCGAGG	0.463000													19	74					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53173924	53173924	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:53173924G>C	ENST00000445930.2	+	1	35	c.29G>C	c.(28-30)aGa>aCa	p.R10T	PSMC6_ENST00000606149.1_5'UTR			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CCCTATGAGAGACGGCTTCTC	0.627000													5	23					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538528	58538528	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:58538528G>A	ENST00000394282.4	+	7	910	c.503G>A	c.(502-504)gGa>gAa	p.G168E	NDRG4_ENST00000569923.1_Missense_Mutation_p.G61E|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134E|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148E|NDRG4_ENST00000570248.1_Missense_Mutation_p.G116E|NDRG4_ENST00000562999.1_Missense_Mutation_p.G116E|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116E|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134E|NDRG4_ENST00000356752.4_Missense_Mutation_p.G146E|NDRG4_ENST00000258187.5_Missense_Mutation_p.G148E	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	116					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTGGGCGCCGGAGCCTATGTG	0.597000													5	66					0	0	1	0	0
PRIMPOL	201973	broad.mit.edu	37	4	185578442	185578442	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:185578442C>G	ENST00000314970.6	+	3	581	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	PRIMPOL_ENST00000503752.1_Missense_Mutation_p.Q50E|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.Q50E|PRIMPOL_ENST00000515774.1_Intron	NM_152683.2	NP_689896			primase and polymerase (DNA-directed)	50																	TCGACAAGCTCAAGCTTTTAA	0.408000													8	41					0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50218470	50218470	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:50218470C>G	ENST00000359332.2	+	13	1291	c.1201C>G	c.(1201-1203)Cag>Gag	p.Q401E		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	401						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AAATAAATATCAGTGGATCAG	0.299000													3	17					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976912	29976912	+	RNA	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:29976912C>G	ENST00000376797.3	-	0	767				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							AGGACGTTTTCTTCCCGCAGA	0.512000													30	54					0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177036642	177036642	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:177036642C>G	ENST00000029410.5	+	6	1041	c.930C>G	c.(928-930)ctC>ctG	p.L310L		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	310					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)			GCACTGTCCTCAACATCATGT	0.582000													7	18					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141394	20141394	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:20141394C>T	ENST00000375121.2	-	1	377	c.201G>A	c.(199-201)ctG>ctA	p.L67L	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	67						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGAGCTTCAGGCAGATGG	0.667000													11	44					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91668079	91668079	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:91668079G>C	ENST00000359028.2	+	18	4946	c.4721G>C	c.(4720-4722)aGa>aCa	p.R1574T	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1574T|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1562T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1574					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTATAGTTAGACAGTCTGTA	0.294000			T	BRAF	papillary thyroid								6	46					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17056240	17056240	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:17056240C>A	ENST00000418129.2	+	3	2942	c.2477C>A	c.(2476-2478)tCt>tAt	p.S826Y	PLCL2_ENST00000432376.1_Missense_Mutation_p.S826Y|PLCL2_ENST00000396755.2_Missense_Mutation_p.S826Y	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	952	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGCCTCTCCTCTGTGGCCAAT	0.507000													22	203					1.42536e-11	1.54777e-11	1	1	0
GK5	256356	broad.mit.edu	37	3	141905047	141905047	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:141905047C>T	ENST00000392993.2	-	8	895	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GK5_ENST00000544571.1_Silent_p.V248V	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	248					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTGTGTCCCTCACAGGAGGTA	0.358000													7	35					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101153084	101153084	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:101153084G>C	ENST00000428847.2	-	2	1714	c.1398C>G	c.(1396-1398)ttC>ttG	p.F466L		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	466					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTGCTCTAAGAATTCATGTC	0.403000													23	148					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38163902	38163902	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:38163902G>A	ENST00000346219.3	+	36	5164	c.5143G>A	c.(5143-5145)Gag>Aag	p.E1715K	DLEC1_ENST00000308059.6_Silent_p.*1756*|DLEC1_ENST00000452631.2_Silent_p.*1759*	NM_007337.2	NP_031363.2	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	0					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CACCAGCCCTGAGGCTCCGCC	0.602000													4	39					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849028	94849028	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:94849028C>T	ENST00000448921.1	-	4	1119	c.547G>A	c.(547-549)Gat>Aat	p.D183N	SERPINA1_ENST00000355814.4_Missense_Mutation_p.D183N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.D183N|SERPINA1_ENST00000393088.4_Missense_Mutation_p.D183N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.D183N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.D183N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.D183N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.D183N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.D183N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	183					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TCCACGTAATCGTTGATCTGT	0.433000													18	141					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48284178	48284178	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:48284178A>G	ENST00000435803.1	+	11	1292	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	423					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						CTCAGATTACAGCATCTGTGG	0.393000													7	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430058	179430058	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:179430058G>A	ENST00000589042.1	-	326	81025	c.80801C>T	c.(80800-80802)tCa>tTa	p.S26934L	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S25293L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17869L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S24366L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17994L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S18061L|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25293	Fibronectin type-III 96.						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)			CAAAACAGTTGAGGTAGCTGT	0.403000													21	148					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767487	20767487	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:20767487G>C	ENST00000258821.3	-	4	573	c.517C>G	c.(517-519)Cag>Gag	p.Q173E		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	173					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ACATCCATCTGAACAGCCAAC	0.483000													10	57					0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045759	26045759	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:26045759C>A	ENST00000540144.1	+	1	121	c.121C>A	c.(121-123)Cgc>Agc	p.R41S		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	41					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R41C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAACCTCATCGCTACCGCCC	0.642000													11	71					4.36969e-10	4.72433e-10	1	1	0
TP53BP2	7159	broad.mit.edu	37	1	223983975	223983975	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:223983975G>A	ENST00000391878.2	-	14	2647	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.Q756*|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	750					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AAAAGCTTCTGAATATTTGGC	0.473000													34	76					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102568812	102568812	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:102568812G>A	ENST00000376143.4	-	1	183	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	FGF14_ENST00000376131.4_Intron	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	62					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTTGGCGCCGCAACCTGCGC	0.652000													3	40					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111381191	111381191	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:111381191T>C	ENST00000428084.1	-	47	5271	c.4999A>G	c.(4999-5001)Aca>Gca	p.T1667A	DOCK4_ENST00000437633.1_Missense_Mutation_p.T1658A|DOCK4_ENST00000494651.2_Missense_Mutation_p.T541A			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1658	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GATTGCCCTGTAATATTGCTT	0.408000													32	127					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121416	18121416	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:18121416G>A	ENST00000379656.3	+	7	1216	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	ARRDC2_ENST00000222250.4_Missense_Mutation_p.E350K	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2											endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGCCGACACTGAGGAGGCAGC	0.642000													12	79					0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862216	25862216	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:25862216G>C	ENST00000397060.4	-	4	454	c.345C>G	c.(343-345)atC>atG	p.I115M	SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CAGCACCAAAGATGATGCCTT	0.453000													3	17					0	0	1	0	0
YIPF1	54432	broad.mit.edu	37	1	54332476	54332476	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:54332476A>C	ENST00000072644.1	-	8	939	c.603T>G	c.(601-603)atT>atG	p.I201M	YIPF1_ENST00000371399.1_Missense_Mutation_p.I18M|YIPF1_ENST00000539954.1_Missense_Mutation_p.I226M|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	201						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						AGACACACACAATCTCCAGAA	0.438000													20	55					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115346571	115346571	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:115346571G>C	ENST00000357872.4	+	14	2351	c.2227G>C	c.(2227-2229)Gat>Cat	p.D743H		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		743					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GAACATCTATGATATATACTC	0.323000													7	59					0	0	1	0	0
TMEM60	85025	broad.mit.edu	37	7	77423609	77423609	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:77423609C>T	ENST00000257663.3	-	2	458	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	28						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GCTTTCTCATCCAGTTTCAAC	0.428000													10	43					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120802240	120802240	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:120802240C>G	ENST00000369144.3	-	19	2919	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	EIF3A_ENST00000541549.1_Missense_Mutation_p.R897T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	931	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTCATCTCTTCTATGAGACCT	0.483000													24	160					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183670916	183670916	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:183670916G>A	ENST00000334444.6	-	18	2865	c.2625C>T	c.(2623-2625)ttC>ttT	p.F875F	ABCC5_ENST00000265586.6_Silent_p.F875F	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	875	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCAGGTGCTGAAGGCGGTGC	0.507000													13	70					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183814213	183814213	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:183814213G>C	ENST00000438320.2	-	5	719	c.429C>G	c.(427-429)ctC>ctG	p.L143L	DCTD_ENST00000357067.3_Silent_p.L154L|DCTD_ENST00000510370.1_Silent_p.L143L	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	143					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		TATTAAACAGGAGCCTCGCAG	0.488000													12	128					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90701064	90701064	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:90701064G>C	ENST00000458208.1	-	6	1012	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ACTA2_ENST00000480297.1_5'UTR|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.L180V	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	180					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCCAGATCCAGACGCATGATG	0.552000													9	54					0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28326872	28326872	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:28326872G>C	ENST00000354638.3	-	2	304	c.149C>G	c.(148-150)tCc>tGc	p.S50C	OCA2_ENST00000382996.2_Missense_Mutation_p.S50C|OCA2_ENST00000353809.5_Missense_Mutation_p.S50C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	50					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CCTGGGGCAGGAGTGCGAGGG	0.637000									Oculocutaneous Albinism				3	17					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29920832	29920832	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:29920832G>A	ENST00000256062.5	-	2	628	c.155C>T	c.(154-156)gCg>gTg	p.A52V	TMTC1_ENST00000552618.1_Splice_Site_p.A160V|TMTC1_ENST00000551659.1_Splice_Site_p.A160V|TMTC1_ENST00000539277.1_Splice_Site_p.A160V|TMTC1_ENST00000381224.2_Splice_Site_p.A52V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	160						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TACACTTACCGCCTCAGTATG	0.363000													7	56					0	0	1	0	0
ADAM15	8751	broad.mit.edu	37	1	155028324	155028324	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:155028324C>T	ENST00000356955.2	+	7	772	c.671C>T	c.(670-672)tCg>tTg	p.S224L	ADAM15_ENST00000447332.3_Missense_Mutation_p.S208L|ADAM15_ENST00000449910.2_Missense_Mutation_p.S224L|ADAM15_ENST00000271836.6_Missense_Mutation_p.S224L|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000355956.2_Missense_Mutation_p.S224L|ADAM15_ENST00000531455.1_Missense_Mutation_p.S234L|ADAM15_ENST00000359280.4_Missense_Mutation_p.S224L|ADAM15_ENST00000360674.4_Missense_Mutation_p.S224L|ADAM15_ENST00000368412.3_Missense_Mutation_p.S224L|ADAM15_ENST00000472434.1_3'UTR	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	224	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCTGATCACTCGGAGGTGAGC	0.572000													4	102					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95561490	95561490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:95561490C>G	ENST00000317968.4	+	9	1308	c.1172C>G	c.(1171-1173)tCa>tGa	p.S391*	PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Nonsense_Mutation_p.S282*|PDLIM5_ENST00000542407.1_Nonsense_Mutation_p.S269*|PDLIM5_ENST00000514743.1_Nonsense_Mutation_p.S420*	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	391					regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCAGCCAACTCAGCTTTGGGA	0.478000													9	45					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17051886	17051886	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:17051886C>A	ENST00000418129.2	+	2	1135	c.670C>A	c.(670-672)Cag>Aag	p.Q224K	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.Q224K|PLCL2_ENST00000396755.2_Missense_Mutation_p.Q224K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	350	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTTAGTTCAGTTTTCAAG	0.363000													6	55					0.00198382	0.002019	1	1	0
TROAP	10024	broad.mit.edu	37	12	49717639	49717639	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:49717639G>C	ENST00000551245.1	+	3	267	c.156G>C	c.(154-156)caG>caC	p.Q52H	TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000550709.1_Missense_Mutation_p.Q52H|TROAP_ENST00000257909.3_Missense_Mutation_p.Q52H|TROAP_ENST00000548311.1_Missense_Mutation_p.Q52H|TROAP_ENST00000380327.5_Missense_Mutation_p.Q52H|TROAP_ENST00000549275.1_Intron|RP11-161H23.9_ENST00000553259.1_RNA			Q12815	TROAP_HUMAN	trophinin associated protein	52					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GATGGGTGCAGAAACCACCGC	0.557000													28	52					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100168921	100168921	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:100168921C>G	ENST00000395996.1	+	15	2269	c.2158C>G	c.(2158-2160)Caa>Gaa	p.Q720E	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.Q720E|VPS13B_ENST00000358544.2_Missense_Mutation_p.Q720E|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q720E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	720					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGCCTTACTCAACCTTCTGA	0.393000													45	79					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507488	18507488	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:18507488G>A	ENST00000339007.3	-	1	939	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	LRRC25_ENST00000595840.1_Missense_Mutation_p.P96S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	96						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CGAGACAAGGGGTTGCGTAGC	0.622000													4	20					0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64875665	64875665	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:64875665G>C	ENST00000331710.5	+	8	1195	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	286	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AAACATCCTTGAAGCAGATCA	0.358000													6	53					0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180310454	180310454	+	Splice_Site	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:180310454T>C	ENST00000410066.1	-	8	1521	c.918A>G	c.(916-918)ggA>ggG	p.G306G	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Splice_Site_p.G230G|ZNF385B_ENST00000336917.5_Splice_Site_p.G204G|ZNF385B_ENST00000409692.1_Splice_Site_p.G204G	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	306						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TGTGTTTAGATCCTAAGACAG	0.378000													16	46					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7184570	7184570	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:7184570G>C	ENST00000341500.5	-	3	770	c.731C>G	c.(730-732)tCt>tGt	p.S244C	INSR_ENST00000302850.5_Missense_Mutation_p.S244C	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	244	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|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|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|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			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)	GTCGGGCTGAGAACAGTTGCC	0.627000													3	24					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133327436	133327436	+	Splice_Site	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:133327436C>G	ENST00000539605.1	-	2	7139		c.e2-1		ANKLE2_ENST00000357997.5_Splice_Site|ANKLE2_ENST00000337516.5_Splice_Site			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2							cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TAGATCCTTTCTGGGTAAGAA	0.433000													8	39					0	0	1	0	0
ANTXR2	118429	broad.mit.edu	37	4	80899316	80899316	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:80899316C>T	ENST00000403729.2	-	15	1717	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	ANTXR2_ENST00000346652.6_Missense_Mutation_p.D295N|ANTXR2_ENST00000404191.1_Missense_Mutation_p.D321N|ANTXR2_ENST00000307333.7_Missense_Mutation_p.D398N	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	398						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GATCCTTTATCACCCCAACGA	0.453000									Juvenile Hyaline Fibromatosis				15	33					0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58056069	58056069	+	Missense_Mutation	SNP	A	A	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:58056069A>C	ENST00000556826.1	-	3	688	c.452T>G	c.(451-453)aTt>aGt	p.I151S	SLC35F4_ENST00000339762.6_Missense_Mutation_p.I187S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.I28S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTATAAGTAATTTTTACAAT	0.398000													6	33					0	0	1	0	0
RPS16	6217	broad.mit.edu	37	19	39924220	39924220	+	Missense_Mutation	SNP	G	G	T	rs11555713		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:39924220G>T	ENST00000339471.4	-	3	372	c.332C>A	c.(331-333)tCt>tAt	p.S111Y	RPS16_ENST00000599539.1_Intron|RPS16_ENST00000251453.3_Intron|RPS16_ENST00000601655.1_Intron			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGTGAGAAAGACACACAATT	0.547000													21	82					7.41877e-09	7.92895e-09	1	1	0
MAST1	22983	broad.mit.edu	37	19	12958471	12958471	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:12958471G>A	ENST00000251472.4	+	6	573	c.534G>A	c.(532-534)atG>atA	p.M178I	MAST1_ENST00000591495.1_Missense_Mutation_p.M174I	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	178					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCGTGATGATGAATCACGTCT	0.647000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	51					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317865	154317865	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:154317865C>T	ENST00000368489.3	+	23	2637	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	865					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGATTACTCCTTCTCCCAGT	0.532000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	243					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910439	32910439	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:32910439G>C	ENST00000544455.1	+	11	2174	c.1947G>C	c.(1945-1947)caG>caC	p.Q649H	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q649H	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	649	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCTGTTCACAGAATGATTCTG	0.303000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	24					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100191795	100191795	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:100191795G>A	ENST00000554176.1	+	8	1421	c.755G>A	c.(754-756)cGc>cAc	p.R252H	CYP46A1_ENST00000261835.3_Missense_Mutation_p.R415H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R318H			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	415					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AACCCCGATCGCTTCGGCCCT	0.612000													4	45					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976035	131976035	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:131976035C>T	ENST00000356920.5	+	1	154	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.L20L|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	20							ATP binding										CATTTGGTCTCAGGAGCAAGA	0.552000													23	112					0	0	1	0	0
ENAH	55740	broad.mit.edu	37	1	225718302	225718302	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:225718302G>C	ENST00000366844.3	-	4	839	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	ENAH_ENST00000366843.2_Missense_Mutation_p.Q130E|ENAH_ENST00000284563.6_Missense_Mutation_p.Q149E|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.Q130*(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TTTTGAACTTGAGCAGGTAGT	0.363000													15	105					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43582247	43582247	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:43582247G>C	ENST00000372236.4	+	11	2390	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	POLH_ENST00000535400.1_Missense_Mutation_p.E637Q|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	699					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCCCAGGCCTGAGGGCATGCA	0.448000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				28	173					0	0	1	0	0
C9orf153	389766	broad.mit.edu	37	9	88842267	88842267	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:88842267G>C	ENST00000376001.3	-	4	367	c.287C>G	c.(286-288)tCt>tGt	p.S96C	C9orf153_ENST00000469914.1_Intron|C9orf153_ENST00000339137.3_Intron	NM_001276366.1	NP_001263295.1	Q5TBE3	CI153_HUMAN	chromosome 9 open reading frame 153	96										breast(1)|lung(1)	2						tatttttggagatggggtctt	0.358000													19	51					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99019306	99019306	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:99019306G>A	ENST00000453547.2	-	5	692	c.693C>T	c.(691-693)ctC>ctT	p.L231L	ARHGAP19_ENST00000371027.1_Silent_p.L222L|ARHGAP19_ENST00000358531.4_Silent_p.L231L|ARHGAP19_ENST00000355366.5_Silent_p.L222L|ARHGAP19-SLIT1_ENST00000358308.3_Silent_p.L231L|ARHGAP19-SLIT1_ENST00000316676.8_Silent_p.L231L																							GAATGAGGAAGAGCAACTGGA	0.408000													18	98					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110790865	110790865	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:110790865C>A	ENST00000327908.3	+	4	1175	c.411C>A	c.(409-411)tcC>tcA	p.S137S	LRIT3_ENST00000594814.1_Silent_p.S320S|LRIT3_ENST00000409621.2_Silent_p.S137S|LRIT3_ENST00000379920.3_Silent_p.S275S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	275						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GCATTTCTTCCAAAGACGCTG	0.433000													16	95					6.94344e-10	7.49611e-10	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4700372	4700372	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:4700372C>T	ENST00000540757.2	+	3	186	c.26C>T	c.(25-27)tCa>tTa	p.S9L	DYRK4_ENST00000543431.1_Missense_Mutation_p.S9L|DYRK4_ENST00000010132.5_Missense_Mutation_p.S9L	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	9						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTCAAGGCTTCAGAAATACCT	0.493000													19	38					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140810657	140810657	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:140810657G>A	ENST00000252085.3	+	1	473	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGATGGAGGATAAAGT	0.443000													30	58					0	0	1	0	0
FAM86JP	100125556	broad.mit.edu	37	3	125639728	125639728	+	RNA	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:125639728C>G	ENST00000485843.1	+	0	312					NR_024251.1																						CCGGTGCTTTCTCTCAGAACT	0.557000													7	42					0	0	1	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671189	22671189	+	RNA	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:22671189G>C	ENST00000390460.1	+	0	254																											GCTGAAGACAGAAAGTCCAGT	0.522000													5	9					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12674658	12674658	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr18:12674658G>C	ENST00000262127.2	-	11	1943	c.1718C>G	c.(1717-1719)tCa>tGa	p.S573*	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Nonsense_Mutation_p.S498*|PSMG2_ENST00000589405.1_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	573					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTGCCTGCTGATATACTTGT	0.408000													8	56					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3389956	3389956	+	Splice_Site	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:3389956G>A	ENST00000378378.4	+	8	1580		c.e8-1		ARHGEF16_ENST00000378373.1_Splice_Site|ARHGEF16_ENST00000413250.2_Splice_Site|ARHGEF16_ENST00000378371.2_Splice_Site	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16						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|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			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)		TCCTCTTGCAGAAGCAGCAAC	0.622000													10	51					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844987	93844987	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:93844987G>A	ENST00000315765.9	+	20	3415	c.3407G>A	c.(3406-3408)aGa>aAa	p.R1136K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1136					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)				CTCTCCCTCAGACTCTGCTCT	0.517000													22	117					0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838418	31838418	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:31838418C>T	ENST00000544672.1	-	11	1067	c.771G>A	c.(769-771)cgG>cgA	p.R257R	SLC44A4_ENST00000229729.6_Silent_p.R333R|SLC44A4_ENST00000375562.4_Silent_p.R291R	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	333						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CAATACGAATCCGCTGCCGCA	0.622000													11	9					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24905653	24905653	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:24905653G>A	ENST00000251343.5	+	7	1884	c.1745G>A	c.(1744-1746)cGa>cAa	p.R582Q	KHNYN_ENST00000553935.1_Missense_Mutation_p.R582Q|KHNYN_ENST00000554268.1_Missense_Mutation_p.R27Q|KHNYN_ENST00000556842.1_Missense_Mutation_p.R582Q			O15037	KHNYN_HUMAN	KH and NYN domain containing	582										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CCACTGGGGCGAAACGGCCCC	0.567000											OREG0022628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	31					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220298625	220298625	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:220298625G>A	ENST00000366922.1	+	13	1802	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	IARS2_ENST00000302637.5_Missense_Mutation_p.D563N			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	563					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)	ACACGGCAGTGATATCTGGTG	0.383000													14	94					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32910986	32910986	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:32910986G>A	ENST00000544455.1	+	11	2721	c.2494G>A	c.(2494-2496)Gag>Aag	p.E832K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	832	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.E832K(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAAAACGTTGAGCTGTTGCC	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			7	33					0	0	1	0	0
GAB1	2549	broad.mit.edu	37	4	144390255	144390255	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:144390255G>A	ENST00000262995.4	+	11	2515	c.2088G>A	c.(2086-2088)aaG>aaA	p.K696K	GAB1_ENST00000505913.1_Silent_p.K563K|GAB1_ENST00000262994.4_Silent_p.K666K	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	666					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACCAACAGAAGACCTTGGCTC	0.453000													10	54					0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122353813	122353813	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:122353813C>T	ENST00000541212.1	+	5	733	c.607C>T	c.(607-609)Ctt>Ttt	p.L203F	RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000542602.1_Missense_Mutation_p.L98F|PSMD9_ENST00000261817.2_Missense_Mutation_p.L202F			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		CCAGCTTAGACTTGTTCCAAC	0.453000													8	39					0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183858504	183858504	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:183858504C>G	ENST00000273783.3	+	7	1264	c.1142C>G	c.(1141-1143)cCc>cGc	p.P381R	EIF2B5_ENST00000444495.1_Missense_Mutation_p.P381R	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	381					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCATTGGCCCCGGCTGCCAC	0.562000													12	63					0	0	1	0	0
RPL34	6164	broad.mit.edu	37	4	109543138	109543138	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:109543138G>A	ENST00000394668.2	+	2	89	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	RPL34_ENST00000502534.1_Missense_Mutation_p.R8Q|RPL34_ENST00000394667.3_Missense_Mutation_p.R8Q|RPL34_ENST00000506397.1_Missense_Mutation_p.R8Q|RPL34_ENST00000394665.1_Missense_Mutation_p.R8Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	8					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		TTGACATACCGACGTAGGCTT	0.328000													10	86					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207745	58207745	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:58207745C>T	ENST00000377918.3	+	1	1091	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	355	Cadherin 4.				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)		GTTTCGTCTCCGTGCGCCAGG	0.667000													15	26					0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77857488	77857488	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:77857488G>C	ENST00000216471.4	+	3	2212	c.1926G>C	c.(1924-1926)ttG>ttC	p.L642F	SAMD15_ENST00000533095.2_Missense_Mutation_p.L56F	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	642										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGATTCCTTGACTTTATCTG	0.398000													15	80					0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871400	100871400	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:100871400C>T	ENST00000539247.1	-	4	643	c.211G>A	c.(211-213)Gag>Aag	p.E71K	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Missense_Mutation_p.E71K|ARMCX6_ENST00000361910.4_Missense_Mutation_p.E71K	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	71						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						TCCCCATCCTCAGTCCAGGGC	0.597000													13	25					0	0	1	0	0
SF3A1	10291	broad.mit.edu	37	22	30731722	30731722	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:30731722G>C	ENST00000215793.8	-	14	2281	c.2127C>G	c.(2125-2127)gtC>gtG	p.V709V	SF3A1_ENST00000439242.1_Silent_p.V644V	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa		Ubiquitin-like.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TGGGCACCTGGACTTTGATGG	0.532000													17	50					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29627008	29627008	+	Splice_Site	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:29627008G>C	ENST00000334018.6	+	6	653		c.e6-1		EMID1_ENST00000484039.1_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000404820.3_Splice_Site	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1							collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TTCCTCTTCAGATGACCATGC	0.587000													8	53					0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74304801	74304801	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:74304801C>T	ENST00000355773.5	-	11	1755	c.1487G>A	c.(1486-1488)tGa>tAa	p.*496*		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	0					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGTTCCTTCAGTGTCTGTG	0.358000													4	109					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337897	41337897	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:41337897C>T	ENST00000551295.2	+	14	1725	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	CNTN1_ENST00000547849.1_Silent_p.L536L|CNTN1_ENST00000360099.3_Silent_p.L536L|CNTN1_ENST00000347616.1_Silent_p.L536L|CNTN1_ENST00000348761.2_Silent_p.L525L|CNTN1_ENST00000547702.1_Silent_p.L536L	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	536	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCTTGGATCTCACATTTGTTT	0.398000													32	61					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121536	18121536	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:18121536G>A	ENST00000379656.3	+	7	1336	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	ARRDC2_ENST00000222250.4_Missense_Mutation_p.E390K	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2											endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CCTGTACTCTGAGGTGAGCTC	0.582000													3	27					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167787447	167787447	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:167787447G>T	ENST00000367848.1	-	31	4566	c.4069C>A	c.(4069-4071)Ctt>Att	p.L1357I	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1296I|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1449I			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1449					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.L1449I(1)|p.L1449V(1)		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						CTTGGCAAAAGATTTTTAGCT	0.373000													10	46					0.000673444	0.000687263	1	1	0
RPS16	6217	broad.mit.edu	37	19	39924391	39924391	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:39924391G>A	ENST00000339471.4	-	3	201	c.161C>T	c.(160-162)cCa>cTa	p.P54L	RPS16_ENST00000599539.1_Missense_Mutation_p.P54L|RPS16_ENST00000251453.3_Missense_Mutation_p.P54L|RPS16_ENST00000601655.1_Missense_Mutation_p.P37L			P62249	RS16_HUMAN	ribosomal protein S16	54					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCAGAACTGGCTCCAGCAG	0.522000													5	37					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520186	131520186	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:131520186G>T	ENST00000423981.1	+	2	651	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	AMER3_ENST00000321420.4_Missense_Mutation_p.G181W	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGCGGCCGAGGGGAAAAGCCT	0.647000													9	52					3.86212e-05	3.97948e-05	1	1	0
OR52H1	390067	broad.mit.edu	37	11	5565995	5565995	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:5565995G>C	ENST00000322653.4	-	1	784	c.759C>G	c.(757-759)gtC>gtG	p.V253V	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGACACAGACATGAGAAC	0.502000													5	27					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10850575	10850575	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:10850575C>A	ENST00000283027.5	+	6	408	c.389C>A	c.(388-390)tCa>tAa	p.S130*	NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Nonsense_Mutation_p.S119*	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	130					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						GGGGTGATGTCAGTGGGCTTC	0.532000													3	38					0.00909568	0.00920675	1	1	0
NWD1	284434	broad.mit.edu	37	19	16899841	16899841	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:16899841C>G	ENST00000524140.2	+	13	3198	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	NWD1_ENST00000552788.1_Missense_Mutation_p.S927C|NWD1_ENST00000549814.1_Missense_Mutation_p.S927C|NWD1_ENST00000523826.1_Missense_Mutation_p.S721C|NWD1_ENST00000339803.6_Missense_Mutation_p.S792C|NWD1_ENST00000379808.3_Missense_Mutation_p.S927C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	927							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCGCCAACTCTGCTTCAAAG	0.498000													11	96					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52657774	52657774	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:52657774G>T	ENST00000334575.5	-	6	581	c.426C>A	c.(424-426)agC>agA	p.S142R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	142	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CTTGTCCATGGCTCTTTAAGA	0.522000													19	134					2.94398e-08	3.13297e-08	1	1	0
NOXA1	10811	broad.mit.edu	37	9	140327695	140327695	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:140327695G>C	ENST00000341349.2	+	10	1069	c.889G>C	c.(889-891)Gag>Cag	p.E297Q	NOXA1_ENST00000392815.2_Missense_Mutation_p.E241Q	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	297			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGGCCCCTGTGAGGACCCCGC	0.652000													3	7					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134465342	134465342	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:134465342G>A	ENST00000372195.1	-	16	2534	c.2291C>T	c.(2290-2292)gCc>gTc	p.A764V	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.A747V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A765V			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	747	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GAATGTGTCGGCAAAGGGAGA	0.557000													5	117					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1589370	1589370	+	RNA	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:1589370T>C	ENST00000436493.2	-	0	508																											ACCTTCTGCATGCTGAGTCGC	0.473000													6	62					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9450105	9450105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:9450105C>T	ENST00000379719.3	+	13	1496	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	452					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTATAAAGATCAGATGGAATA	0.299000													3	37					0	0	1	0	0
KLF7	8609	broad.mit.edu	37	2	207953279	207953279	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:207953279C>T	ENST00000309446.6	-	3	1136	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KLF7_ENST00000458272.1_Missense_Mutation_p.E64K|KLF7_ENST00000421199.1_Missense_Mutation_p.E221K|KLF7_ENST00000412414.2_Missense_Mutation_p.E226K|KLF7_ENST00000423015.1_Silent_p.G186G|KLF7_ENST00000467833.1_5'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	254					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TCACATCCCTCCCATGAGCAC	0.532000													17	42					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664519	136664519	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:136664519C>G	ENST00000469404.1	+	2	220	c.129C>G	c.(127-129)ctC>ctG	p.L43L	NCK1_ENST00000288986.2_Silent_p.L107L|NCK1_ENST00000481752.1_Silent_p.L107L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	107	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTATGACCTCAACATGCCCG	0.433000													12	84					0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159941	152159941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:152159941C>A	ENST00000439251.1	-	2	640	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	PNMA5_ENST00000535214.1_Nonsense_Mutation_p.E68*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.E68*|PNMA5_ENST00000361887.5_Nonsense_Mutation_p.E68*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	68					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tcagccagttcaatgaagact	0.517000													16	66					3.32936e-07	3.52298e-07	1	1	0
FMO3	2328	broad.mit.edu	37	1	171083383	171083383	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:171083383G>C	ENST00000367755.4	+	7	1175	c.1064G>C	c.(1063-1065)gGa>gCa	p.G355A	FMO3_ENST00000538429.1_Missense_Mutation_p.G292A|FMO3_ENST00000542847.1_Missense_Mutation_p.G335A|FMO3_ENST00000392085.2_Missense_Mutation_p.G355A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	355					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTATTTAAAGGAGTATTTCCT	0.443000													5	67					0	0	1	0	0
GP1BA	2811	broad.mit.edu	37	17	4837819	4837819	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:4837819G>A	ENST00000329125.5	+	2	1995	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	640										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						AGGACCTGCTGAGCACAGTGA	0.592000											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	36					0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110279	48110279	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:48110279G>A	ENST00000422538.3	-	6	677	c.555C>T	c.(553-555)ctC>ctT	p.L185L	ENDOU_ENST00000229003.3_Silent_p.L144L|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000545824.2_Silent_p.L122L	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	185					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CATAAGTGAAGAGTCTGGGGG	0.597000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	22					0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44101517	44101517	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:44101517C>T	ENST00000344290.5	+	15	2633	c.2311C>T	c.(2311-2313)Ctg>Ttg	p.L771L	MAPT_ENST00000351559.5_Silent_p.L436L|MAPT_ENST00000431008.3_Silent_p.L405L|MAPT_ENST00000446361.3_Silent_p.L378L|MAPT_ENST00000571987.1_Silent_p.L753L|MAPT_ENST00000420682.2_Silent_p.L407L|MAPT_ENST00000340799.5_Silent_p.L407L|MAPT_ENST00000574436.1_Silent_p.L436L|MAPT_ENST00000415613.2_Silent_p.L771L|MAPT_ENST00000576518.1_Silent_p.L336L|MAPT_ENST00000334239.8_Silent_p.L347L|MAPT_ENST00000262410.5_Silent_p.L753L|MAPT_ENST00000535772.1_Silent_p.L405L|MAPT_ENST00000347967.5_Silent_p.L311L	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	753					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GTCTGCCTCCCTGGCCAAGCA	0.572000													15	38					0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70165249	70165249	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:70165249G>C	ENST00000264444.2	+	6	759	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	MXD1_ENST00000540449.1_Missense_Mutation_p.E157Q	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	167					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CGTTGACGTGGAGAGCACGGA	0.562000													7	36					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219614781	219614781	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:219614781C>T	ENST00000392102.1	+	15	3125	c.2785C>T	c.(2785-2787)Cgt>Tgt	p.R929C	TTLL4_ENST00000442769.1_Missense_Mutation_p.R865C|TTLL4_ENST00000457313.1_Missense_Mutation_p.R764C|TTLL4_ENST00000258398.4_Missense_Mutation_p.R929C	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	929	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CCAGATGATTCGTGACCTTCT	0.517000													34	135					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933213	44933213	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:44933213G>C	ENST00000291187.4	-	6	2047	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.F581L	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AATTCCGCCGGAAGCCCTTCC	0.582000													11	75					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23385677	23385677	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:23385677C>T	ENST00000258729.3	-	8	1179	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	275					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGGATCTCTTCTGTGCTGTAA	0.328000													10	65					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36749363	36749363	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:36749363G>T	ENST00000280527.2	+	13	2702	c.2335G>T	c.(2335-2337)Gat>Tat	p.D779Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	779	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CATCTGCATTGATAGCGTAAT	0.458000													23	78					2.39556e-15	2.62422e-15	1	1	0
CLCN2	1181	broad.mit.edu	37	3	184071459	184071459	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:184071459C>G	ENST00000265593.4	-	16	2017	c.1846G>C	c.(1846-1848)Gag>Cag	p.E616Q	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E572Q|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E616Q|CLCN2_ENST00000344937.7_Missense_Mutation_p.E599Q	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	616	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCAGGGGACTCCACTAGGGCC	0.647000													5	14					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322864	4322864	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:4322864G>A	ENST00000337872.4	+	8	2240	c.2119G>A	c.(2119-2121)Gat>Aat	p.D707N	ZBTB49_ENST00000355834.3_Missense_Mutation_p.D585N|ZBTB49_ENST00000538529.1_Missense_Mutation_p.D190N	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTGCAGGCCGATGGCATGGC	0.592000													4	36					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131351159	131351159	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:131351159G>C	ENST00000358161.5	+	21	3056	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	SPTAN1_ENST00000372731.4_Missense_Mutation_p.K981N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K981N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	981	SH3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATCAGGAGAAGAGTCCCCGAG	0.517000													21	31					0	0	1	0	0
DTWD1	56986	broad.mit.edu	37	15	49935752	49935752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:49935752G>T	ENST00000251250.6	+	6	1099	c.892G>T	c.(892-894)Gaa>Taa	p.E298*	DTWD1_ENST00000415425.1_Nonsense_Mutation_p.E211*|DTWD1_ENST00000403028.3_Nonsense_Mutation_p.E298*|DTWD1_ENST00000558653.1_Nonsense_Mutation_p.E298*	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	298										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TGGAGATAAGGAAACAGGAAA	0.269000													9	59					2.17888e-05	2.27017e-05	1	1	0
LRRC31	79782	broad.mit.edu	37	3	169569542	169569542	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:169569542C>G	ENST00000316428.5	-	7	1081	c.1024G>C	c.(1024-1026)Gaa>Caa	p.E342Q	LRRC31_ENST00000523069.1_Missense_Mutation_p.E342Q|LRRC31_ENST00000264676.5_Missense_Mutation_p.E286Q	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	342										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)			AAATCCAATTCTTGAAGATTT	0.388000													32	78					0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75375618	75375618	+	Missense_Mutation	SNP	C	C	T	rs148351182	byFrequency	TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:75375618C>T	ENST00000555647.1	-	10	1665	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.E460K|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.E460K|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.E429K			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	460	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TCCGTCAGCTCGGAAATCCCA	0.587000													11	45					0	0	1	0	0
SPATA12	353324	broad.mit.edu	37	3	57107992	57107992	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:57107992C>G	ENST00000334325.1	+	2	945	c.270C>G	c.(268-270)atC>atG	p.I90M	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	90										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		AAGCAGCCATCTCTCTTGACA	0.502000													9	56					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95889827	95889827	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:95889827G>A	ENST00000323666.5	+	7	1049	c.820G>A	c.(820-822)Gat>Aat	p.D274N	METAP2_ENST00000261220.9_Missense_Mutation_p.D251N|METAP2_ENST00000551840.1_Missense_Mutation_p.D273N|METAP2_ENST00000550777.1_Missense_Mutation_p.D238N|METAP2_ENST00000546753.1_Missense_Mutation_p.D251N	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	274					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TCCCAAATATGATACGTTATT	0.313000													29	90					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7520877	7520877	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:7520877C>T	ENST00000338316.4	+	3	524	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	145					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATCATCTTCGTGGTGTACA	0.512000													11	62					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46758181	46758181	+	Missense_Mutation	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:46758181G>T	ENST00000256689.5	-	10	1308	c.864C>A	c.(862-864)ttC>ttA	p.F288L	SLC38A2_ENST00000551374.1_Missense_Mutation_p.F126L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	288					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCTGTGAGTTGAAAATAAAAT	0.383000													45	74					1.22674e-20	1.34978e-20	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143094725	143094725	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:143094725G>A	ENST00000367603.2	-	5	1893	c.1151C>T	c.(1150-1152)tCg>tTg	p.S384L	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S384L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S384L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	384					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)		AAGGTTGAGCGATGGCTCAGA	0.438000													21	105					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420670	27420670	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:27420670T>G	ENST00000211936.6	-	6	952	c.668A>C	c.(667-669)aAg>aCg	p.K223T	ZNF184_ENST00000377419.1_Missense_Mutation_p.K223T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K223R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCATTGCACTTACAAGATTT	0.363000													18	142					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32172069	32172069	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:32172069C>G	ENST00000375023.3	-	19	3101	c.2963G>C	c.(2962-2964)gGa>gCa	p.G988A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	988	EGF-like 25.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGAATCCTCCAGGTTTGGG	0.592000													5	38					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404592	124404592	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:124404592G>C	ENST00000303921.2	-	1	1089	c.439C>G	c.(439-441)Cag>Gag	p.Q147E		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	147						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCTGAGATCTGAAGGAAGAGC	0.612000													19	164					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791099	106791099	+	RNA	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:106791099C>T	ENST00000390613.2	-	0	336																											GATGGTGAATCGGCCCTTCAC	0.507000													22	517					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39116612	39116612	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:39116612C>G	ENST00000355612.2	-	6	1173	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	380	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGCAGGATCTCGTATTCTTGG	0.517000													26	187					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897336	36897336	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:36897336C>G	ENST00000301807.6	-	12	3992	c.2095G>C	c.(2095-2097)Gag>Cag	p.E699Q	TRANK1_ENST00000429976.2_Missense_Mutation_p.E1249Q|TRANK1_ENST00000428977.2_Missense_Mutation_p.E699Q			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1249					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						TCAGCCTCCTCTTCATCCTCT	0.488000													3	94					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50036060	50036060	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:50036060G>A	ENST00000261897.1	+	19	2373	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E621K|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E643K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	621					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGGCACG	0.637000													11	90					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87666149	87666149	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:87666149G>C	ENST00000436978.1	+	17	2998	c.2518G>C	c.(2518-2520)Gat>Cat	p.D840H	PTPN13_ENST00000316707.6_Missense_Mutation_p.D840H|PTPN13_ENST00000511467.1_Missense_Mutation_p.D840H|PTPN13_ENST00000427191.2_Missense_Mutation_p.D840H|PTPN13_ENST00000411767.2_Missense_Mutation_p.D840H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	840	FERM.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAATACATCAGATGGAATAAA	0.358000													4	8					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57802985	57802985	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:57802985C>T	ENST00000360338.3	+	3	1398	c.1076C>T	c.(1075-1077)aCt>aTt	p.T359I	ZNF460_ENST00000537645.1_Missense_Mutation_p.T318I	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CGGATTCACACTGGTGAGAAG	0.502000													12	50					0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553113	19553113	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:19553113C>T	ENST00000536433.1	-	1	3564	c.454G>A	c.(454-456)Gac>Aac	p.D152N	OSR1_ENST00000272223.2_Missense_Mutation_p.D152N			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	152					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)				TTGGTCACGTCGAGGAGGGCA	0.612000													9	67					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280372	43280372	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:43280372C>G	ENST00000512796.1	+	4	2351	c.852C>G	c.(850-852)ctC>ctG	p.L284L	NIM1_ENST00000326035.2_Silent_p.L284L			Q8IY84	NIM1_HUMAN		284	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AGAGCATCCTCGAGGGCACAT	0.562000													6	68					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535961	166535961	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:166535961G>C	ENST00000314499.7	+	7	1832	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E518Q|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E486Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	486					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACAAGCAGAAGAGGCCTATGG	0.502000													5	28					0	0	1	0	0
TMEM206	55248	broad.mit.edu	37	1	212548621	212548621	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:212548621C>G	ENST00000261455.4	-	7	942	c.805G>C	c.(805-807)Gac>Cac	p.D269H	TMEM206_ENST00000535273.1_Missense_Mutation_p.D330H	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	269						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GGCCTCTGGTCAATGTAGTTA	0.453000													4	56					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649112	3649112	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:3649112C>G	ENST00000263087.4	-	18	2363	c.2265G>C	c.(2263-2265)tgG>tgC	p.W755C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	755					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATCCGCTGCTCCACTCCCTCA	0.567000													26	49					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136651210	136651210	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:136651210C>T	ENST00000287538.5	+	2	1760	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Missense_Mutation_p.R404C	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	404					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R404C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GAGCTCCCTGCGCAAACACAT	0.577000													37	52					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966399	41966399	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:41966399C>G	ENST00000298919.7	+	10	1426	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L	PDZRN4_ENST00000402685.2_Silent_p.L606L|PDZRN4_ENST00000539469.2_Silent_p.L348L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	606							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGAGAGCCTCGTATCTGGTG	0.488000													7	41					0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84200568	84200568	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:84200568G>A	ENST00000376499.3	-	18	3044	c.1980C>T	c.(1978-1980)atC>atT	p.I660I		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	660					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCAGGGAGAAGATCTACAAGG	0.547000													8	14					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101477459	101477459	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:101477459G>A	ENST00000392979.3	+	15	1655	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	ANO4_ENST00000299222.9_Intron|ANO4_ENST00000392977.3_Missense_Mutation_p.E467K|ANO4_ENST00000550015.1_Intron	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	467						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCTTTAGGAAGAAATACGACC	0.378000										HNSCC(74;0.22)			31	62					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243743	13243743	+	Missense_Mutation	SNP	A	A	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:13243743A>G	ENST00000337630.6	-	2	86	c.19T>C	c.(19-21)Tcg>Ccg	p.S7P	GSG1_ENST00000432710.2_Missense_Mutation_p.S20P|GSG1_ENST00000537302.1_Missense_Mutation_p.S7P|GSG1_ENST00000457134.2_Missense_Mutation_p.S7P|GSG1_ENST00000396302.3_Missense_Mutation_p.S7P|GSG1_ENST00000396310.2_Missense_Mutation_p.S4P|GSG1_ENST00000324458.8_Missense_Mutation_p.S20P|GSG1_ENST00000351606.6_Missense_Mutation_p.S20P	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	7						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGCCTTCGAGAGCTCCATC	0.557000													17	34					0	0	1	0	0
PTMS	5763	broad.mit.edu	37	12	6878820	6878820	+	Silent	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:6878820C>A	ENST00000309083.6	+	2	426	c.97C>A	c.(97-99)Cga>Aga	p.R33R	PTMS_ENST00000389462.4_Silent_p.R33R|PTMS_ENST00000538057.1_3'UTR	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	33					DNA replication	nucleus				endometrium(2)|large_intestine(2)|liver(1)	5						ccggaaagagcgaaagaaaga	0.537000													4	38					1.23904e-05	1.29276e-05	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169374374	169374374	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:169374374G>A	ENST00000511577.1	-	8	1144	c.897C>T	c.(895-897)ctC>ctT	p.L299L	DDX60L_ENST00000260184.7_Silent_p.L299L|DDX60L_ENST00000505890.1_Silent_p.L299L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	299							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AAGCCACACAGAGGCAACGCA	0.453000													24	40					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38522888	38522888	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:38522888G>C	ENST00000352511.4	+	8	1478	c.1006G>C	c.(1006-1008)Gtg>Ctg	p.V336L		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB		Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACAGCCGTGCTGGCTGA	0.522000													17	86					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59828784	59828784	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:59828784C>G	ENST00000278865.3	+	2	224	c.151C>G	c.(151-153)Ctt>Gtt	p.L51V	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.L51V|MS4A3_ENST00000534744.1_Missense_Mutation_p.L51V|MS4A3_ENST00000526199.1_3'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	51						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ATTACAAGTTCTTGGGGTAAG	0.433000													9	69					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140048815	140048815	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:140048815C>G	ENST00000358337.5	+	6	1049	c.812C>G	c.(811-813)tCc>tGc	p.S271C	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	271					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACTGGCTCCACTGATGGA	0.552000													11	47					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276798	42276798	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr22:42276798G>A	ENST00000361204.4	+	10	2006	c.1840G>A	c.(1840-1842)Gac>Aac	p.D614N		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	614					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTCCCGCCTGGACCTGGCCTG	0.607000													6	56					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144680442	144680442	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:144680442G>C	ENST00000321385.3	+	1	369	c.222G>C	c.(220-222)gaG>gaC	p.E74D	TIGD5_ENST00000504548.2_Missense_Mutation_p.E123D			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	123					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACGAGGAGGAGATCGACCGCG	0.706000													4	13					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131356505	131356505	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:131356505G>C	ENST00000358161.5	+	24	3380	c.3267G>C	c.(3265-3267)aaG>aaC	p.K1089N	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372731.4_Missense_Mutation_p.K1089N|SPTAN1_ENST00000372739.3_Missense_Mutation_p.K1089N			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1089					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGTTGGAGAAGAGTTGCAAGA	0.473000													37	46					0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85525508	85525508	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:85525508C>T	ENST00000295887.5	+	2	653	c.230C>T	c.(229-231)tCt>tTt	p.S77F		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	77					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)		AAAGCTCTATCTGGTTTATCT	0.373000													7	88					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21207467	21207467	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:21207467G>C	ENST00000381541.3	+	11	1644	c.1579G>C	c.(1579-1581)Gat>Cat	p.D527H	SLCO1B7_ENST00000421593.2_Missense_Mutation_p.D480H|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D527H|LST3_ENST00000540229.1_Intron																							ATGCCCAAGAGATGATGCTTG	0.373000													20	65					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913581	16913581	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:16913581G>C	ENST00000430580.2	-	11	1629	c.742C>G	c.(742-744)Cat>Gat	p.H248D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	248	NBPF 1.					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)		CATTCATCATGAGAGGATTCT	0.453000													27	594					0	0	1	0	0
UNC93B1	81622	broad.mit.edu	37	11	67766695	67766695	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:67766695G>C	ENST00000227471.2	-	5	714	c.635C>G	c.(634-636)tCc>tGc	p.S212C	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	212					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GGGCGCGTGGGAGCCCCGCGG	0.602000													7	56					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879343	228879343	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:228879343C>T	ENST00000366691.3	+	3	1299	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	211					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AAAAAAACCTCAAAGAGGTCT	0.483000													11	103					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24570899	24570899	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:24570899G>C	ENST00000319715.4	+	8	1180	c.748G>C	c.(748-750)Gat>Cat	p.D250H	RBBP6_ENST00000381039.3_Missense_Mutation_p.D250H|RBBP6_ENST00000348022.2_Missense_Mutation_p.D250H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	250					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTCAGAAGAAGATGATCCTAT	0.403000													11	31					0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78867587	78867587	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:78867587G>A	ENST00000306801.3	+	20	2685	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	RPTOR_ENST00000544334.2_Missense_Mutation_p.E617K|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	775					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CCCCGAGAATGAGGAGCATAT	0.657000													12	50					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638738	145638738	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:145638738C>T	ENST00000276833.5	-	9	1738	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	SLC39A4_ENST00000531013.1_5'UTR|SLC39A4_ENST00000301305.3_Missense_Mutation_p.D504N	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	504						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	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;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGCACGGCGTCGCCCAGAGTG	0.697000													5	10					0	0	1	0	0
BLID	414899	broad.mit.edu	37	11	121986320	121986320	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:121986320G>C	ENST00000560104.1	-	1	603	c.311C>G	c.(310-312)tCt>tGt	p.S104C		NM_001001786.2	NP_001001786.2	Q8IZY5	BLID_HUMAN	BH3-like motif containing, cell death inducer	104					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		GGCCTCAGCAGAGGAATTGCA	0.448000													24	49					0	0	1	0	0
SLC13A5	284111	broad.mit.edu	37	17	6610377	6610377	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:6610377G>A	ENST00000433363.2	-	2	434	c.201C>T	c.(199-201)ttC>ttT	p.F67F	SLC13A5_ENST00000293800.6_Silent_p.F67F|SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000573648.1_Silent_p.F67F	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	67						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GGAAGAGTGGGAAAAGCAAGA	0.527000													8	10					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948453	119948453	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:119948453C>G	ENST00000307142.4	+	3	1125	c.929C>G	c.(928-930)tCt>tGt	p.S310C	SYNPO2_ENST00000434046.2_Missense_Mutation_p.S310C|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S310C|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	310						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGTGTGGATTCTCCAGTGGAA	0.567000													12	39					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6709469	6709469	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:6709469C>T	ENST00000309577.6	-	9	1319	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	CHD4_ENST00000357008.2_Missense_Mutation_p.D386N|CHD4_ENST00000544484.1_Missense_Mutation_p.D383N|CHD4_ENST00000544040.1_Missense_Mutation_p.D379N			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	386					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGACAGGTATCACACAGGATG	0.597000													4	69					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961433	99961433	+	Missense_Mutation	SNP	T	T	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:99961433T>G	ENST00000297565.4	+	2	749	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V	OSR2_ENST00000435298.2_Missense_Mutation_p.F85V|OSR2_ENST00000523368.1_Missense_Mutation_p.F85V|OSR2_ENST00000522510.1_Missense_Mutation_p.F85V|OSR2_ENST00000457907.2_Missense_Mutation_p.F206V	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	85					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GCGCTTCCCCTTCCCGGCCCT	0.657000													21	70					0	0	1	0	0
CLPSL2	389383	broad.mit.edu	37	6	35747197	35747197	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:35747197G>C	ENST00000360454.2	+	4	356	c.352G>C	c.(352-354)Gat>Cat	p.D118H	CLPSL2_ENST00000403376.3_Missense_Mutation_p.L91F|CLPSL2_ENST00000481904.1_3'UTR			Q6UWE3	CF126_HUMAN	colipase-like 2	0					digestion|lipid catabolic process	extracellular region	enzyme activator activity										CCAAGGACTTGATGTGTTCCC	0.557000													3	8					0	0	1	0	0
RPN1	6184	broad.mit.edu	37	3	128345616	128345616	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:128345616C>T	ENST00000296255.3	-	6	1144	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	RPN1_ENST00000490166.1_5'UTR|RPN1_ENST00000497289.1_Missense_Mutation_p.D194N	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	366					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		GTCAGAGAATCTATCACTTGT	0.468000			T	EVI1	AML								18	53					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116083807	116083807	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:116083807C>T	ENST00000374193.4	-	8	868	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	WDR31_ENST00000374195.3_Missense_Mutation_p.E83K|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.E207K	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	208										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GTTTTATCTTCAGAGGTCTGT	0.473000													18	26					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79084914	79084914	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:79084914C>T	ENST00000446378.2	+	10	11707	c.11676C>T	c.(11674-11676)ctC>ctT	p.L3892L	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3892	B30.2/SPRY.|Fibronectin type-III 2.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCTGCTCTCATCTCCACCA	0.458000													50	99					0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681455	55681455	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:55681455C>T	ENST00000344514.1	-	1	603	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACCAAAGACGGTGAATAAC	0.388000													5	63					0	0	1	0	0
CDR2L	30850	broad.mit.edu	37	17	73000133	73000133	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:73000133C>T	ENST00000337231.5	+	5	1774	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	454												all_lung(278;0.226)					AGGCTGACATCAACGCCACCA	0.622000													7	9					0	0	1	0	0
TSFM	10102	broad.mit.edu	37	12	58180834	58180834	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:58180834G>C	ENST00000454289.3	+	4	585	c.372G>C	c.(370-372)gaG>gaC	p.E124D	TSFM_ENST00000543727.1_Missense_Mutation_p.E124D|TSFM_ENST00000540550.1_Missense_Mutation_p.E124D|TSFM_ENST00000550559.1_Missense_Mutation_p.E124D|TSFM_ENST00000350762.5_Missense_Mutation_p.E84D|TSFM_ENST00000548851.1_Missense_Mutation_p.E124D|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000323833.8_Missense_Mutation_p.E124D	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	124					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TAAACTGTGAGACAGATTTTG	0.373000													5	22					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27284864	27284864	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:27284864C>G	ENST00000380032.3	-	8	825	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	EQTN_ENST00000537675.1_Missense_Mutation_p.E219Q	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated																		GTGCTGCTCTCTGCACTCTTG	0.428000													26	80					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301425	62301425	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:62301425C>T	ENST00000378024.4	-	5	738	c.464G>A	c.(463-465)aGa>aAa	p.R155K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	155					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)				CGTGACCCTTCTGGTCACTGT	0.542000													16	90					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189857621	189857621	+	Silent	SNP	T	T	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:189857621T>A	ENST00000304636.3	+	15	1175	c.1005T>A	c.(1003-1005)ccT>ccA	p.P335P	COL3A1_ENST00000317840.5_Silent_p.P335P	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	335	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGGCCCTCCTGGTCCTCCTG	0.383000													12	84					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42857109	42857109	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:42857109C>G	ENST00000200557.6	+	27	2466	c.2297C>G	c.(2296-2298)tCc>tGc	p.S766C	ADAM11_ENST00000535346.1_Missense_Mutation_p.S566C	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	766					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CGTTCCAGGTCCGGAGGGGCC	0.721000													8	49					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357796	121357796	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:121357796G>A	ENST00000297848.3	+	45	5341	c.5071G>A	c.(5071-5073)Gaa>Aaa	p.E1691K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1691K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1596K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1691	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)			GACCCCAGGAGAACGAGGTAA	0.582000													6	15					0	0	1	0	0
WHAMM	123720	broad.mit.edu	37	15	83499431	83499431	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:83499431G>C	ENST00000286760.4	+	9	1821	c.1722G>C	c.(1720-1722)caG>caC	p.Q574H		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	574						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						TTTCCCAGCAGATGTGCTTGC	0.507000													17	133					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604138	31604138	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:31604138C>G	ENST00000376033.2	+	26	6011	c.5777C>G	c.(5776-5778)tCc>tGc	p.S1926C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S1926C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1926	3 X 50 AA type C 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						CCTCCACCTTCCTTCCTCTAC	0.542000													8	77					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52816059	52816059	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:52816059G>C	ENST00000273283.2	+	7	815	c.791G>C	c.(790-792)cGa>cCa	p.R264P	ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.R264P|ITIH1_ENST00000540715.1_Missense_Mutation_p.R122P|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	264					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GATGTCAGTCGAGACAAGATC	0.587000													17	56					0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638065	6638065	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr11:6638065G>C	ENST00000299427.6	-	7	773	c.713C>G	c.(712-714)tCa>tGa	p.S238*	TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	238					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGCCAGGTCTGAGTCATGGAA	0.582000													5	48					0	0	1	0	0
JADE1	79960	broad.mit.edu	37	4	129792519	129792519	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:129792519C>G	ENST00000226319.6	+	11	1911	c.1631C>G	c.(1630-1632)tCt>tGt	p.S544C	PHF17_ENST00000452328.2_Missense_Mutation_p.S532C|PHF17_ENST00000512960.1_Missense_Mutation_p.S544C	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		544	Poly-Ser.				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGTGTGCCTTCTTCCTGCTCC	0.408000													13	136					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623609	46623609	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:46623609C>G	ENST00000371347.5	+	2	388	c.136C>G	c.(136-138)Cga>Gga	p.R46G	SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Missense_Mutation_p.R46G	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	46					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CACAAAAACTCGACTCCAAAT	0.458000													14	62					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47075206	47075206	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:47075206C>G	ENST00000290341.3	+	1	433	c.99C>G	c.(97-99)ttC>ttG	p.F33L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F33L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	33	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCGGCCAGTTCTTGGTCAAAT	0.572000													10	94					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79168758	79168758	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:79168758G>C	ENST00000269392.4	-	17	2287	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	AZI1_ENST00000575907.1_Silent_p.L680L|AZI1_ENST00000450824.2_Silent_p.L677L|AZI1_ENST00000374782.3_Silent_p.L677L	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	680					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTAATTCTTTGAGTTTTTTAA	0.567000													12	100					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19328082	19328082	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:19328082G>C	ENST00000380432.2	+	12	1500	c.1467G>C	c.(1465-1467)ttG>ttC	p.L489F	DENND4C_ENST00000602925.1_Missense_Mutation_p.L725F|DENND4C_ENST00000434457.2_Missense_Mutation_p.L725F			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	489						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						CGCAGGAGTTGAAACTTTGTT	0.348000													24	65					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231471604	231471604	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:231471604C>T	ENST00000366645.1	-	1	1994	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K	EXOC8_ENST00000360394.2_Missense_Mutation_p.E630K			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	630					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTCAGGGCCTCTTCCAAGAAG	0.478000													10	74					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152527344	152527344	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:152527344G>A	ENST00000367255.5	-	126	23579	c.22978C>T	c.(22978-22980)Cgg>Tgg	p.R7660W	SYNE1_ENST00000341594.5_Missense_Mutation_p.R7272W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7660W|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2184W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7589W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7589W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7660					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		TCTTCCAGCCGCATGCTGGCT	0.478000										HNSCC(10;0.0054)			3	43					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		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)		agcagcaacaacagcagcagc	0.567000													4	38					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131345412	131345412	+	Silent	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr9:131345412C>T	ENST00000358161.5	+	15	1976	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L	SPTAN1_ENST00000372731.4_Silent_p.L621L|SPTAN1_ENST00000372739.3_Silent_p.L621L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	621					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGCTGAGCTCTCAGCAAACC	0.458000													19	31					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66101940	66101940	+	Missense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:66101940G>A	ENST00000349533.6	+	20	2925	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LEPR_ENST00000406510.3_5'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	914					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCTTCTTTTGGAGCCTGAAAC	0.363000													19	168					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74041974	74041974	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:74041974C>G	ENST00000296805.3	-	9	1082	c.625G>C	c.(625-627)Gaa>Caa	p.E209Q	GFM2_ENST00000345239.2_Missense_Mutation_p.E209Q|GFM2_ENST00000427854.2_Missense_Mutation_p.E209Q|GFM2_ENST00000509430.1_Missense_Mutation_p.E209Q	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	209					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGATGCTTTCAACTGCATAC	0.308000													5	23					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178417116	178417116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:178417116C>A	ENST00000408939.3	-	1	626	c.376G>T	c.(376-378)Gag>Tag	p.E126*		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding	p.E126*(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGATCGCCCTCGCTGTACTTG	0.627000													19	163					5.3912e-06	5.67255e-06	1	1	0
ZNF786	136051	broad.mit.edu	37	7	148768420	148768420	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:148768420G>A	ENST00000316286.9	-	3	1458	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	ZNF786_ENST00000451334.3_Nonsense_Mutation_p.Q445*|ZNF786_ENST00000491431.1_Nonsense_Mutation_p.Q482*			Q8N393	ZN786_HUMAN	zinc finger protein 786	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTGGGCACTGAAAGGGCTTC	0.652000													5	38					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206619542	206619542	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:206619542G>C	ENST00000414007.1	+	14	1576	c.1576G>C	c.(1576-1578)Gag>Cag	p.E526Q	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	666	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CCACGTGAATGAGCTGATCAA	0.567000													15	91					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45050939	45050939	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:45050939G>C	ENST00000558173.1	+	2	4833	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	TRIM69_ENST00000559390.1_Missense_Mutation_p.E234Q|TRIM69_ENST00000560442.1_Missense_Mutation_p.E30Q|TRIM69_ENST00000338264.4_Missense_Mutation_p.E75Q|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.E234Q|TRIM69_ENST00000558329.1_Missense_Mutation_p.E30Q			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	234	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGCCTTGAATGAGGAGATGGA	0.468000													5	20					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514394	75514394	+	Silent	SNP	G	G	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr14:75514394G>T	ENST00000355774.2	-	2	2180	c.1965C>A	c.(1963-1965)atC>atA	p.I655I	MLH3_ENST00000556740.1_Silent_p.I655I|MLH3_ENST00000238662.7_Silent_p.I655I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Silent_p.I655I	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	655					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CTAAATCTTTGATGTCTGGAG	0.363000								Mismatch excision repair (MMR)					4	120					0.150653	0.151262	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15960898	15960898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:15960898G>A	ENST00000268712.3	-	40	6579	c.6322C>T	c.(6322-6324)Cag>Tag	p.Q2108*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q692*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q2005*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2108	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)		TGGACAGACTGAGCCTGGGAT	0.433000													38	86					0	0	1	0	0
VAMP8	8673	broad.mit.edu	37	2	85808710	85808710	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:85808710C>A	ENST00000263864.5	+	3	330	c.174C>A	c.(172-174)ttC>ttA	p.F58L	VAMP8_ENST00000432071.1_Missense_Mutation_p.F32L|VAMP8_ENST00000409760.1_3'UTR	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	58	v-SNARE coiled-coil homology.				post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						CTGAGCACTTCAAGACGACAT	0.473000													19	112					1.33834e-09	1.44069e-09	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602000											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	51					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81213418	81213418	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr15:81213418C>G	ENST00000394685.3	+	16	2468	c.2049C>G	c.(2047-2049)atC>atG	p.I683M	KIAA1199_ENST00000356249.5_Missense_Mutation_p.I683M|KIAA1199_ENST00000220244.3_Missense_Mutation_p.I683M|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	683										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACAACCTCATCAACTGTGCCG	0.557000													10	51					0	0	1	0	0
NSMCE2	286053	broad.mit.edu	37	8	126114644	126114644	+	Silent	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr8:126114644C>G	ENST00000287437.3	+	3	288	c.72C>G	c.(70-72)ctC>ctG	p.L24L	NSMCE2_ENST00000522563.1_Silent_p.L24L	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	24					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGTCTGCTCTCTCCTCCTTGA	0.403000													30	53					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56481932	56481932	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:56481932C>T	ENST00000291971.3	+	6	2475	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	NLRP8_ENST00000590542.1_Missense_Mutation_p.P802S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	802						cytoplasm	ATP binding	p.P802T(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGGCCACCCCTAGAATTTG	0.468000													21	136					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151478311	151478311	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:151478311G>C	ENST00000287878.4	-	3	897	c.393C>G	c.(391-393)tcC>tcG	p.S131S	PRKAG2_ENST00000392801.2_Silent_p.S87S|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	131					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AAGACTCTTTGGAGGAGGAGC	0.587000													16	94					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60043857	60043857	+	Silent	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:60043857G>C	ENST00000397786.2	-	19	4423	c.4347C>G	c.(4345-4347)ctC>ctG	p.L1449L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1449					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATAAAGCTTGAGTTTAGAAA	0.398000													23	66					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009035	46009035	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:46009035C>G	ENST00000296137.2	-	8	1996	c.1791G>C	c.(1789-1791)gaG>gaC	p.E597D	FYCO1_ENST00000535325.1_Missense_Mutation_p.E597D	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	597					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTAACTGTGCCTCCTGCAGGC	0.617000													14	75					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437346	44437346	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:44437346C>G	ENST00000255108.3	+	4	944	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.Q123E|DPH2_ENST00000529729.1_3'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	258					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGGGAAGACTCAGGATGAGGG	0.627000													9	52					0	0	1	0	0
TMX3	54495	broad.mit.edu	37	18	66378603	66378603	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr18:66378603C>G	ENST00000299608.2	-	3	455	c.139G>C	c.(139-141)Gat>Cat	p.D47H	TMX3_ENST00000562706.1_Missense_Mutation_p.D47H|TMX3_ENST00000443099.2_Missense_Mutation_p.D47H	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	47	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ATACTTACATCTACAAGCCAA	0.299000													9	59					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958737	51958737	+	Missense_Mutation	SNP	C	C	T	rs138700631		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:51958737C>T	ENST00000321424.3	-	4	1052	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R236Q|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R220Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	329	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R329Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTCTGAGCTCGGCAGGTGAA	0.637000													6	33					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644345	169644345	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:169644345G>C	ENST00000428432.2	+	6	684	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.E99Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	99										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTTTAGGACAGAAATGGAAAT	0.378000													10	50					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4954269	4954269	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:4954269G>C	ENST00000328908.5	+	9	1907	c.1776G>C	c.(1774-1776)caG>caC	p.Q592H	CDYL_ENST00000397588.3_Missense_Mutation_p.Q538H|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.Q406H|CDYL_ENST00000343762.5_Missense_Mutation_p.Q406H			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	592					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		AGTACTTGCAGAGGAAGATCG	0.572000													4	42					0	0	1	0	0
RPS16	6217	broad.mit.edu	37	19	39924227	39924227	+	Missense_Mutation	SNP	A	A	T	rs11555713		TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:39924227A>T	ENST00000339471.4	-	3	365	c.325T>A	c.(325-327)Tgt>Agt	p.C109S	RPS16_ENST00000599539.1_Intron|RPS16_ENST00000251453.3_Intron|RPS16_ENST00000601655.1_Intron			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAAGACACACAATTAAAGGGT	0.547000													19	81					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855410	31855410	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:31855410C>T	ENST00000395728.3	-	14	2125	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	EHMT2_ENST00000375537.4_Missense_Mutation_p.R652Q|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.R675Q|EHMT2_ENST00000375530.4_Missense_Mutation_p.R618Q			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	652					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						GTACAACTGCCGAGGGTGGAA	0.592000													16	57					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	156244	156244	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr5:156244C>G	ENST00000283426.6	+	8	1249	c.1199C>G	c.(1198-1200)cCa>cGa	p.P400R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	400					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTGGAAGACCCACTGCTTGTG	0.592000													4	77					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74746796	74746796	+	Missense_Mutation	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr2:74746796C>T	ENST00000404568.3	-	10	1912	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	DQX1_ENST00000393951.2_Missense_Mutation_p.E565K	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	565						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCTAGGAGTTCTCCCCGAAGT	0.537000													23	50					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74533594	74533594	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:74533594C>G	ENST00000293230.5	-	1	393	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Intron|CYGB_ENST00000589342.1_Missense_Mutation_p.E11Q	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	11					response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TCCCTGCGCTCGATCTCCATC	0.726000													4	32					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662104	99662104	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr7:99662104C>G	ENST00000292450.4	+	4	1450	c.1286C>G	c.(1285-1287)tCc>tGc	p.S429C	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P395A|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P395A	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	429					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AACCACAGCTCCAACTTCAAT	0.502000													19	46					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107109286	107109286	+	Missense_Mutation	SNP	G	G	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr12:107109286G>C	ENST00000392842.1	+	11	1516	c.1102G>C	c.(1102-1104)Gac>Cac	p.D368H	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000229387.5_Missense_Mutation_p.D274H|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.D377H	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	368	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACCATGGAAGACTCTCGCGA	0.453000													16	26					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112693690	112693690	+	Missense_Mutation	SNP	C	C	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:112693690C>A	ENST00000471858.1	-	1	247	c.15G>T	c.(13-15)tgG>tgT	p.W5C	CD200R1_ENST00000308611.3_Missense_Mutation_p.W5C|CD200R1_ENST00000490004.1_Missense_Mutation_p.W5C|CD200R1_ENST00000295863.4_Missense_Mutation_p.W5C|CD200R1_ENST00000440122.2_Missense_Mutation_p.W5C	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	5					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TAGCAGTTCTCCAAGGGCAGA	0.468000													5	65					1	1	1	1	0
TOX2	84969	broad.mit.edu	37	20	42695477	42695477	+	Silent	SNP	G	G	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr20:42695477G>A	ENST00000358131.5	+	7	1618	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	TOX2_ENST00000372999.1_Silent_p.E446E|TOX2_ENST00000341197.4_Silent_p.E488E|TOX2_ENST00000423191.2_Silent_p.E446E|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	470					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)			CCAGTGGGGAGTGTGGCATCA	0.647000													9	71					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	47011841	47011841	+	Translation_Start_Site	SNP	C	C	T			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr13:47011841C>T	ENST00000409879.2	-	0	484							Q9H714	CM018_HUMAN	KIAA0226-like											NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCTGGTGCCACGGCTTCAGTG	0.448000													5	6					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228433261	228433261	+	Nonsense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:228433261C>G	ENST00000570156.2	+	13	3979	c.3905C>G	c.(3904-3906)tCa>tGa	p.S1302*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	281	Ig-like 13.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGCTCAAAAGTACGC	0.627000													9	61					0	0	1	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922297	44922297	+	Missense_Mutation	SNP	C	C	G			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr6:44922297C>G	ENST00000371460.1	-	10	978	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	SUPT3H_ENST00000371461.2_Missense_Mutation_p.E221Q|SUPT3H_ENST00000371458.1_5'UTR|SUPT3H_ENST00000371459.1_Missense_Mutation_p.E210Q|SUPT3H_ENST00000306867.5_Missense_Mutation_p.E210Q	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	292					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GGTTTTATCTCCATACTGCTG	0.368000													44	62					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		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)			ACCCACACCTTCTGCAACTAC	0.522000													4	98					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128945	248128953	+	In_Frame_Del	DEL	TAAGACCAT	TAAGACCAT	-			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr1:248128945_248128953delTAAGACCAT	ENST00000366480.3	+	1	411_419	c.312_320delTAAGACCAT	c.(310-321)agtaagaccatt>agt	p.KTI105del	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTCACAGAGTAAGACCATTAGATTTTTG	0.464													20	91	---	---	---	---					
WNT5A	7474	broad.mit.edu	37	3	55513487	55513488	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr3:55513487_55513488insA	ENST00000474267.1	-	4	766_767	c.245_246insT	c.(244-246)ctgfs	p.L82fs	WNT5A_ENST00000264634.4_Frame_Shift_Ins_p.L82fs|WNT5A_ENST00000497027.1_Frame_Shift_Ins_p.L67fs			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	82					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		ACAAGTGGCACAGTTTCTTCTG	0.470													27	122	---	---	---	---					
DHTKD1	55526	broad.mit.edu	37	10	12123607	12123607	+	Frame_Shift_Del	DEL	G	G	-			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr10:12123607delG	ENST00000263035.4	+	2	353	c.291delG	c.(289-291)cagfs	p.Q97fs	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	97					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AGACACTGCAGGGACCCTTCC	0.582													12	99	---	---	---	---					
MRPS7	51081	broad.mit.edu	37	17	73261831	73261834	+	Frame_Shift_Del	DEL	TGGA	TGGA	-			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr17:73261831_73261834delTGGA	ENST00000579002.1	+	4	1058_1061	c.643_646delTGGA	c.(643-648)tggatgfs	p.WM215fs	MRPS7_ENST00000245539.6_Frame_Shift_Del_p.WM186fs			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	186					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AGCCATGAAGTGGATGATCACTGA	0.583													24	59	---	---	---	---					
RAVER1	125950	broad.mit.edu	37	19	10431432	10431434	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chr19:10431432_10431434delTGC	ENST00000293677.6	-	9	1799_1801	c.1718_1720delGCA	c.(1717-1722)agcaaa>aaa	p.S573del		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	433						cytoplasm|nucleus	nucleotide binding|protein binding|RNA 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)			TGGAAGGCTTTGCTGCTGCTGCT	0.704													2	4	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44922734	44922735	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:44922734_44922735insA	ENST00000377967.4	+	16	1636_1637	c.1595_1596insA	c.(1594-1599)tcactgfs	p.L533fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.L540fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.L454fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.L488fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	533					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCTGACTCATCACTGCCTACAA	0.530			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								31	27	---	---	---	---					
RENBP	5973	broad.mit.edu	37	X	153201000	153201000	+	Frame_Shift_Del	DEL	A	A	-			TCGA-4Z-AA7W-01A-11D-A391-08	TCGA-4Z-AA7W-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fee95efc-a6c9-4c81-bfdf-7faa51f4fae9	84dc4392-a202-4da6-b5a8-73e7808e3d9c	g.chrX:153201000delA	ENST00000393700.3	-	10	1187	c.1107delT	c.(1105-1107)tttfs	p.F369fs	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Frame_Shift_Del_p.F355fs	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	369					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TCAGGTAGCCAAACCATTCCC	0.627													11	48	---	---	---	---