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
ZNF557	79230	broad.mit.edu	37	19	7075115	7075115	+	Splice_Site	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000414706.1	+	3	503	c.31_splice	c.e3+1	p.A10_splice	ZNF557_ENST00000439035.2_Splice_Site_p.A10_splice|ZNF557_ENST00000252840.6_Splice_Site_p.A10_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642000													9	126					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624790	11624790	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:11624790G>A	ENST00000270517.7	-	3	478	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C|ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000592312.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	115					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	p.R115C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCATCTTGCGCAGGGCCAGG	0.592000													6	111					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562000													14	208					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G14154C(2)		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						AGCCCGGGGCCCACAGGGTCA	0.597000													10	58					1.08611e-07	1.19563e-07	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAATGTGTGGCCAAATCTAAA	0.493000													4	40					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68649516	68649516	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:68649516C>T	ENST00000423218.2	-	7	817	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	ITGA11_ENST00000315757.7_Missense_Mutation_p.R241Q|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	241	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.R241Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAATGCCGTCCGGGTCTCTGT	0.413000													23	82					0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18872377	18872377	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18872377G>A	ENST00000317977.6	+	6	869	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A156T|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	156					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.A156T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGACCTGTACGCGGGGGCTCT	0.612000													9	67					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6210514	6210514	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:6210514C>T	ENST00000350796.3	-	8	794	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	220					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGTTCATGGCGATGAACCGT	0.637000													7	32					0	0	1	0	0
GBP3	2635	broad.mit.edu	37	1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	136						integral to membrane	GTP binding|GTPase activity	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512000													24	158					0	0	1	0	0
MFAP5	8076	broad.mit.edu	37	12	8804283	8804283	+	Silent	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000540087.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433000													8	167					1.58986e-06	1.67961e-06	1	1	0
NUP188	23511	broad.mit.edu	37	9	131768055	131768055	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869_splice	c.e41+1	p.E1623_splice		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597000													18	296					3.32936e-07	3.57497e-07	1	1	0
INADL	10207	broad.mit.edu	37	1	62393501	62393501	+	Splice_Site	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62393501C>T	ENST00000371158.2	+	27	3784	c.3670_splice	c.e27+1	p.Q1224_splice	INADL_ENST00000316485.6_Splice_Site_p.Q1224_splice	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1224					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q1224*(1)|p.Q1224K(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTTACCGACCGTGAGTGCCT	0.388000													5	47					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22415644	22415644	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22415644C>T	ENST00000240123.7	+	5	800	c.417C>T	c.(415-417)agC>agT	p.S139S	SORBS3_ENST00000523402.1_Silent_p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	139	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GATCCCAGAGCGTTGACAGAC	0.512000													9	180					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861451	108861451	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000405925.1_Silent_p.K722K|LIG4_ENST00000442234.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398000								Non-homologous end-joining					11	124					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000327908.3	+	4	2014	c.1250G>C	c.(1249-1251)tGt>tCt	p.C417S	LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	555						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383000													7	101					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616604	1616604	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632000													4	20					0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52970217	52970217	+	Translation_Start_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:52970217A>G	ENST00000261844.7	-	2	154	c.2T>C	c.(1-3)aTg>aCg	p.M1T	FAM214A_ENST00000562351.1_5'UTR	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1								p.M1T(1)									GTCTGGCTTCATTTTCACATC	0.453000													14	134					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896569	77896569	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308000													9	98					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756667	94756667	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000554723.1	-	2	802	c.384A>G	c.(382-384)cgA>cgG	p.R128R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567000													14	60					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43625067	43625067	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:43625067G>A	ENST00000332857.6	-	4	3648	c.3620C>T	c.(3619-3621)aCg>aTg	p.T1207M		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.T1207M(1)									TCCAACTGCCGTCATGAGACC	0.468000													31	438					0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	264701	264701	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:264701G>A	ENST00000360321.2	-	4	347	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M|C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	70								p.T70M(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGTCACCACCGTAGTGGGCTT	0.537000													10	104					0	0	1	0	0
KIF25	0	broad.mit.edu	37	6	168443358	168443358	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:168443358G>A	ENST00000443060.2	+	9	1338	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q			Q9UIL4	KIF25_HUMAN	kinesin family member 25	316					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.R316Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCGTACCGGAACAGCAGG	0.652000													7	157					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2184932	2184932	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527000													23	253					0	0	1	0	0
SV2A	0	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547000													36	133					0	0	1	0	0
FOLR2	2350	broad.mit.edu	37	11	71932028	71932028	+	Missense_Mutation	SNP	G	G	A	rs140643936	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71932028G>A	ENST00000449475.2	+	3	614	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T|FOLR2_ENST00000298223.6_Missense_Mutation_p.A89T			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	89					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GATGGAGCCCGCCTGCAAGCG	0.622000													7	56					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855196	42855196	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42855196G>A	ENST00000200557.6	+	23	2204	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	679	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G679S(2)		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)				CACCTGCCCCGGCAGTGGGGA	0.642000													7	75					0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726000													4	54					0.00909568	0.00930886	1	1	0
ZBTB32	27033	broad.mit.edu	37	19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672000													14	135					1.15088e-07	1.25637e-07	1	1	0
PON2	5445	broad.mit.edu	37	7	95041699	95041699	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95041699G>A	ENST00000536183.1	-	4	538	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PON2_ENST00000222572.3_Missense_Mutation_p.R98W|PON2_ENST00000433091.2_Missense_Mutation_p.R98W	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	98					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTAATTCCCGTGCCCTTGGT	0.438000													5	85					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139448	3139448	+	Missense_Mutation	SNP	C	C	T	rs149846830	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3139448C>T	ENST00000252463.2	-	5	1909	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	608					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTCGCAGGCGTGGGGCTTC	0.711000													5	84					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	rs143566559	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418000													7	70					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A211T(1)		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)		CTGCCGGCAGCGCGGCCACAC	0.647000													9	86					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16957414	16957414	+	RNA	SNP	C	C	T	rs2296161	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:16957414C>T	ENST00000412962.1	-	0	264																											AAGTGCAGGGCGGAGAGAATC	0.706000													5	29					0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99099021	99099021	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:99099021A>G	ENST00000253270.7	-	9	792	c.730T>C	c.(730-732)Ttt>Ctt	p.F244L	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	244						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAAGAAGAAACTGTAGGATA	0.313000													3	8					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412180	43412180	+	Silent	SNP	G	G	A	rs143540135	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:43412180G>A	ENST00000310826.5	-	3	2208	c.2025C>T	c.(2023-2025)tgC>tgT	p.C675C	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.C675C(1)									ACGCTTTTCCGCAGTAAGTAC	0.438000													11	135					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716000			T	IGH@	B-CLL								4	43					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49237789	49237789	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:49237789C>T	ENST00000308025.3	-	3	333	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R85Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTTATTCCGATCCCGCTC	0.488000													21	382					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228456388	228456388	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000570156.2	+	19	5645	c.5571C>T	c.(5569-5571)cgC>cgT	p.R1857R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.R1673R|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	845	Ig-like 18.				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	p.R1673R(1)|p.R1765R(1)		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)				CGAAAGTGCGCGTGGAGGCCG	0.682000													16	154					0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40228862	40228862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:40228862C>T	ENST00000372827.3	-	6	1336	c.961G>A	c.(961-963)Gct>Act	p.A321T	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTTGGGGAGCGATGACCCAG	0.637000													9	162					0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642000													30	178					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10262102	10262102	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:10262102C>T	ENST00000340748.4	-	23	2424	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	730					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.R730H(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCAAGAGATGCGATTCTTGTT	0.512000													17	200					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401818	139401818	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:139401818G>A	ENST00000277541.6	-	22	3657	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1194	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCCCCCGTTCTGGCAGG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			4	37					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771567	143771567	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552000													7	122					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711000													4	14					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701153	17701153	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:17701153G>A	ENST00000353383.1	+	3	5360	c.4891G>A	c.(4891-4893)Gcc>Acc	p.A1631T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1631	Ser-rich.					cytoplasm|nucleus	zinc ion binding	p.A1631T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		Ttcctcctctgcctcctcttc	0.637000													10	152					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723412	7723412	+	Splice_Site	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607000			T	WWTR1	epitheliod hemangioendothelioma								52	246					7.71302e-15	8.63594e-15	1	1	0
MSI2	0	broad.mit.edu	37	17	55339544	55339544	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:55339544G>A	ENST00000284073.2	+	5	512	c.303G>A	c.(301-303)gcG>gcA	p.A101A	MSI2_ENST00000322684.3_Silent_p.A97A|MSI2_ENST00000416426.2_Silent_p.A79A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	101	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.A101A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CTCGTCGAGCGCAACCCAAGG	0.368000			T	HOXA9	CML								12	148					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000393004.2	-	5	3267	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488000													27	187					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5033903	5033903	+	Nonsense_Mutation	SNP	C	C	T	rs142168522		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:5033903C>T	ENST00000574788.1	+	11	2309	c.79C>T	c.(79-81)Cga>Tga	p.R27*	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*|USP6_ENST00000572429.1_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	27					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R27*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGGGACACCGAGCTGGGCT	0.597000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								21	162					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891738	89891738	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:89891738G>A	ENST00000435811.1	-	7	1238	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	GABRR1_ENST00000454853.2_Missense_Mutation_p.R279C|GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	279					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R279C(1)|p.R273C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAGATGTGGCGACGCAACGTG	0.488000													11	167					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604158	13604158	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:13604158T>C	ENST00000040738.5	-	10	4501	c.4366A>G	c.(4366-4368)Aaa>Gaa	p.K1456E		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1456							DNA binding	p.K1456E(1)									TGCTTAAGTTTGACAGTTTCA	0.383000													11	62					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532000													32	207					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6669363	6669363	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:6669363G>A	ENST00000541778.1	-	15	2166	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.R564C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000382421.3_Missense_Mutation_p.R597C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C			P46087	NOP2_HUMAN	NOP2 nucleolar protein	564					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGTAGAACGCAGACTGGGG	0.512000													8	110					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231830155	231830155	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000439617.2	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617000													10	87					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517000													5	65					0.0215528	0.0218869	1	1	0
VKORC1L1	154807	broad.mit.edu	37	7	65419190	65419190	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:65419190C>T	ENST00000360768.3	+	3	539	c.434C>T	c.(433-435)aCg>aTg	p.T145M	VKORC1L1_ENST00000434382.2_Silent_p.H108H	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	145						integral to membrane		p.H108H(1)|p.T145M(1)		large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGCATCGTCACGTACGTGCTG	0.512000													15	118					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537000													11	112					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238274526	238274526	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:238274526C>T	ENST00000295550.4	-	12	6105	c.5653G>A	c.(5653-5655)Gtg>Atg	p.V1885M	COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1885	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.V1885M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACACGCACGGTGGGCGAG	0.612000													19	153					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133799647	133799647	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:133799647C>T	ENST00000321016.8	-	12	1780	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	517	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R517Q(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GACCTGGACCCGGACACTGCC	0.597000													9	106					0	0	1	0	0
DIS3L	115752	broad.mit.edu	37	15	66618502	66618502	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:66618502C>T	ENST00000319194.5	+	12	2013	c.1752C>T	c.(1750-1752)caC>caT	p.H584H	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.H667H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	667					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	p.H667H(1)|p.H584H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACATTCACGACCTCATCC	0.537000													10	112					0	0	1	0	0
ALG2	85365	broad.mit.edu	37	9	101980873	101980873	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	198					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468000													13	118					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22051965	22051965	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22051965C>T	ENST00000306385.5	+	11	1975	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	BMP1_ENST00000397814.3_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C|BMP1_ENST00000306349.8_Silent_p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	435	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.C435C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAGCCATCTGCGGGGGTGATG	0.587000													7	64					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532000													16	238					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741830	120741830	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:120741830C>T	ENST00000202967.4	+	2	525	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	156	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.R156C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGTCGGCGCCTGACAGA	0.567000													6	94					0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21.				glycogen metabolic process			p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483000													19	128					0	0	1	0	0
LAMC1	3915	broad.mit.edu	37	1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAGGCAGAAGCTGAAAGAA	0.373000													8	66					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109772145	109772145	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:109772145G>A	ENST00000369923.4	+	4	409	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SARS_ENST00000234677.2_Missense_Mutation_p.R133Q			P49591	SYSC_HUMAN	seryl-tRNA synthetase	133					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	p.R133Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGAACCTCCGAGAGATTGGG	0.532000													41	407					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000442919.2	-	15	1952	c.1337G>T	c.(1336-1338)aGa>aTa	p.R446I	TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294000													6	60					3.59834e-05	3.77106e-05	1	1	0
SMPD3	55512	broad.mit.edu	37	16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726000													8	51					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748980	19748980	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:19748980C>A	ENST00000203556.4	-	9	914	c.777G>T	c.(775-777)gaG>gaT	p.E259D	GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	259					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCTGGGCCTCCTCTCGCG	0.771000													4	15					1.024e-07	1.13681e-07	1	1	0
CDR2	1039	broad.mit.edu	37	16	22358681	22358681	+	Missense_Mutation	SNP	C	C	T	rs145715358		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:22358681C>T	ENST00000268383.2	-	5	1277	c.970G>A	c.(970-972)Gtg>Atg	p.V324M		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	324						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGGCCCTTCACGATGTCACTC	0.577000													8	63					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171427351	171427351	+	Splice_Site	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000356327.5	-	10	1130	c.1061_splice	c.e10+1	p.W354_splice	PLD1_ENST00000342215.6_Splice_Site_p.W354_splice|PLD1_ENST00000340989.4_Splice_Site_p.W354_splice|PLD1_ENST00000351298.4_Splice_Site_p.W354_splice	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378000													10	106					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000395996.1	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport			p.G1106E(2)		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)			TGGTACCATGGACAAACCAGC	0.428000													6	107					0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121389	58121389	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:58121389C>T	ENST00000184956.6	-	20	3097	c.3081G>A	c.(3079-3081)ccG>ccA	p.P1027P	HEATR6_ENST00000585976.1_Silent_p.P915P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1027							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCTCTTCCCCGGGACGGAAA	0.532000													9	201					0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	rs140918826		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493000													5	66					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239048	2239048	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:2239048G>A	ENST00000343516.6	-	6	689	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	199					signal transduction	cytoplasm		p.N199N(1)|p.N28N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGATGTGGCCGTTTTTAGCTG	0.652000													21	139					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction			p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	99					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212613	10212613	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:10212613G>A	ENST00000418404.3	-	34	5270	c.5107C>T	c.(5107-5109)Cgc>Tgc	p.R1703C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1703S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACAGCCTGCGGGTCCGCTCC	0.667000													4	48					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368000													7	150					0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110447421	110447421	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110447421G>A	ENST00000265175.5	+	17	2886	c.2831G>A	c.(2830-2832)cGt>cAt	p.R944H	SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H|SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	944					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R944H(1)|p.R909H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTTTGTCCGTTCTACTGAT	0.358000													9	124					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636103	42636103	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42636103G>A	ENST00000315323.3	+	1	1179	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	349					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S349S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCATCCTGTCGCTCACCTGGT	0.632000													8	100					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398336	75398336	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:75398336G>A	ENST00000329047.8	+	2	1030	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q|SEPT9_ENST00000427177.1_Missense_Mutation_p.R91Q|SEPT9_ENST00000592420.1_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	91					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.R73Q(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGTCCCTGCGGAGGGTGGAG	0.667000													10	56					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40811928	40811928	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667000													11	170					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617000													9	53					0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57303570	57303570	+	Splice_Site	SNP	A	A	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1983_splice	c.e22-1	p.D662_splice	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423000													7	102					0	0	1	0	0
ACKR6	0	broad.mit.edu	37	17	6381355	6381355	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:6381355C>T	ENST00000262483.8	-	8	927	c.840G>A	c.(838-840)gcG>gcA	p.A280A	ACKR6_ENST00000421306.3_Silent_p.A244A	NM_031220.3	NP_112497.2												p.A280A(2)									CTGAGGGCCCCGCACTGTAGC	0.672000													21	141					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313413	18313413	+	Silent	SNP	C	C	T	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	273					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:45476426C>T	ENST00000541297.2	+	3	691	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R90C			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627000													14	119					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T	rs143948570		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399914.1	-	3	1044	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433000													20	226					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACACACGAAGCGCATCGCATT	0.388000													12	85					0	0	1	0	0
PGA5	5222	broad.mit.edu	37	11	61018744	61018744	+	Silent	SNP	T	T	C	rs601275	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:61018744T>C	ENST00000312403.5	+	9	1343	c.1158T>C	c.(1156-1158)ccT>ccC	p.P386P	PGA4_ENST00000422676.2_Silent_p.P386P|PGA5_ENST00000541528.1_Silent_p.P126P|PGA5_ENST00000451616.2_Silent_p.P232P	NM_014224.2	NP_055039.1	P00790	PEPA_HUMAN	pepsinogen 5, group I (pepsinogen A)	386					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	p.P386P(2)		large_intestine(1)|skin(1)	2						GCCTGGCCCCTGTGGCTTAAG	0.537000													13	195					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					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	p.A224A(1)		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)			TCCTTAAGGCGTCTTCCTCTT	0.542000													30	134					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	680048	680048	+	Missense_Mutation	SNP	C	C	T	rs138706049		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:680048C>T	ENST00000322224.4	-	3	651	c.338G>A	c.(337-339)cGc>cAc	p.R113H	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.R113H|MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	113					transmembrane transport	integral to membrane		p.R113H(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGCACCATGCGTAGCACACT	0.627000													8	80					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.3	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q689P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4377					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562000													9	106					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170938348	170938348	+	Silent	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000418381.1_Silent_p.L1888L|UBR3_ENST00000392631.1_Silent_p.L709L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358000													8	113					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420567	420567	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:420567G>A	ENST00000332826.6	-	19	1766	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	561						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGCAGCGGCGCCAGCGGGAA	0.687000													5	42					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91647609	91647609	+	Silent	SNP	T	T	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000518868.1	+	11	1500	c.810T>C	c.(808-810)tgT>tgC	p.C270C	C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000523771.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522000													5	63					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1068742	1068742	+	Splice_Site	SNP	C	C	T	rs3764655		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:1068742C>T	ENST00000313093.2	+	2	651	c.421_splice	c.e2+1	p.D140_splice	HMHA1_ENST00000590214.1_Splice_Site_p.D167_splice|HMHA1_ENST00000539243.2_Splice_Site_p.D156_splice|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Splice_Site_p.D144_splice	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	140					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	p.D140D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTGCGTGACGGTGAGAGCC	0.652000													13	143					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	88					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622000													12	122					2.27111e-07	2.45881e-07	1	1	0
PCDHA13	0	broad.mit.edu	37	5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662000													12	204					0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185269161	185269161	+	Silent	SNP	A	A	G			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.L273L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353000													10	58					0	0	1	0	0
PCDHA2	0	broad.mit.edu	37	5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T	NM_018905.2	NP_061728.1												p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697000													13	216					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACTCCCTGCTGGGAGCTT	0.557000													4	49					0	0	1	0	0
NUMA1	0	broad.mit.edu	37	11	71725778	71725778	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71725778C>T	ENST00000393695.3	-	15	3102	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	924					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R924H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGCCTTGCGCACCAAGGT	0.602000			T	RARA	APL								9	144					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650708	90650708	+	Silent	SNP	C	C	T	rs114616148	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:90650708C>T	ENST00000282146.4	+	2	1029	c.588C>T	c.(586-588)taC>taT	p.Y196Y		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.Y196Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCGTGTACTACGTCATGCTGA	0.612000													20	243					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701000													10	199					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41891642	41891642	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:41891642G>A	ENST00000398393.1	-	13	1432	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Missense_Mutation_p.P366L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	366	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.P366L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGCAGCTCCGGAGACTCAGC	0.632000													13	279					0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101656775	101656775	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:101656775G>A	ENST00000409318.1	-	6	1075	c.945C>T	c.(943-945)caC>caT	p.H315H	TBC1D8_ENST00000376840.4_Silent_p.H300H	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	300	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.H300H(1)|p.H315H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCACAACCGCGTGCAGCTTCT	0.577000													17	45					0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12881812	12881812	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12881812C>T	ENST00000264827.5	-	10	1006	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R279Q	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	279	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R279Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCCTGGTTCCGGTGCTGCAG	0.652000													4	57					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567000													18	184					5.35267e-07	5.70081e-07	1	1	0
MMRN2	79812	broad.mit.edu	37	10	88702968	88702968	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:88702968G>A	ENST00000372027.4	-	6	1646	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	525						extracellular space		p.R525W(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCTGCCGCCGCTCGTCCAGG	0.697000													6	43					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46724745	46724745	+	Silent	SNP	C	C	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672000													3	22					0.004672	0.00481915	1	1	0
CCDC157	550631	broad.mit.edu	37	22	30768247	30768247	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:30768247G>A	ENST00000405659.1	+	7	2016	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	436										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAGAAGGCCCGTGTCGACAGC	0.662000													5	15					0	0	1	0	0
FLNA	0	broad.mit.edu	37	X	153587627	153587627	+	Silent	SNP	G	G	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000422373.1	-	25	4538	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000369850.3_Silent_p.G1430G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612000													9	69					0	0	1	0	0
ENTPD6	0	broad.mit.edu	37	20	25195565	25195565	+	Silent	SNP	C	C	T	rs146741054		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:25195565C>T	ENST00000360031.2	+	6	839	c.657C>T	c.(655-657)aaC>aaT	p.N219N	ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N|ENTPD6_ENST00000376652.4_Silent_p.N220N	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	220						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCATCATGAACGGAACAGATG	0.463000													4	63					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-	rs145307465		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:19467923delG	ENST00000375267.2	-	57	8409	c.8406delC	c.(8404-8406)ccfs	p.P2802fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.P2802fs			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCAGCATGGGGGGGAAGC	0.587													9	178	---	---	---	---					
KANK4	163782	broad.mit.edu	37	1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62740427delG	ENST00000371153.4	-	3	727	c.349delC	c.(349-351)agfs	p.Q117fs	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	117										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTGAGGCCTGGGGGGCATTA	0.607													15	53	---	---	---	---					
TP53BP2	7159	broad.mit.edu	37	1	223985959	223985959	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:223985959delC	ENST00000391878.2	-	13	2287	c.1519delG	c.(1519-1521)cgfs	p.A507fs	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.A636fs|TP53BP2_ENST00000391879.2_Intron	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	630					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)		TTGGTCAACGCGCTCTGCACA	0.478													9	241	---	---	---	---					
OR2M7	391196	broad.mit.edu	37	1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)ttfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAGAAAATTTGTGTGGCA	0.468													9	513	---	---	---	---					
THADA	63892	broad.mit.edu	37	2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)tgfs	p.L1921fs	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488													7	78	---	---	---	---					
IL1F10	84639	broad.mit.edu	37	2	113832281	113832282	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113832281_113832282delTC	ENST00000337569.3	+	3	175_176	c.100_101delTC	c.(100-102)tfs	p.S34fs	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	34						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCTTGACTCTTCTCTCTCTTCC	0.584													16	321	---	---	---	---					
AC016683.6	0	broad.mit.edu	37	2	113970873	113970873	+	RNA	DEL	G	G	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113970873delG	ENST00000456685.1	+	0	98																											AGAGGACAAAGgggagaggga	0.617													2	4	---	---	---	---					
ARHGAP15	55843	broad.mit.edu	37	2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)ttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502													15	87	---	---	---	---					
HSPD1P6	0	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:36810381delT	ENST00000424886.1	-	0	405																											GAGTGAGGCCttttttttttt	0.542													4	8	---	---	---	---					
MST1R	4486	broad.mit.edu	37	3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)ccfs	p.A311fs	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667													8	343	---	---	---	---					
ENAM	10117	broad.mit.edu	37	4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2523)cgafs	p.R841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421													15	145	---	---	---	---					
TET2	54790	broad.mit.edu	37	4	106158589	106158589	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:106158589delT	ENST00000305737.2	+	3	3894	c.3490delT	c.(3490-3492)ttfs	p.F1165fs	TET2_ENST00000413648.2_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs|TET2_ENST00000540549.1_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000513237.1_Intron	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTTTCCTTCTTTTTTTAAAT	0.368			"""Mis N, F"""		MDS								8	92	---	---	---	---					
AGA	175	broad.mit.edu	37	4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:178352896delT	ENST00000264595.2	-	9	1134	c.1007delA	c.(1006-1008)atfs	p.N336fs		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTTGGCTGATTTTTTTCGGA	0.368													8	89	---	---	---	---					
DIMT1	27292	broad.mit.edu	37	5	61688029	61688029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:61688029delT	ENST00000199320.4	-	10	921	c.761delA	c.(760-762)acfs	p.N254fs	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIMT1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	254						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										AATTCTGTAGTTTTTTTCCAA	0.299													7	185	---	---	---	---					
PHF3	23469	broad.mit.edu	37	6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccfs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358													7	61	---	---	---	---					
CEP41	95681	broad.mit.edu	37	7	130041784	130041785	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:130041784_130041785delTG	ENST00000223208.4	-	8	849_850	c.579_580delCA	c.(577-582)tagtfs	p.YS193fs	CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	193	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											ATTGGGTAACTGTAAGCTGCAA	0.342													7	86	---	---	---	---					
SLC25A25	114789	broad.mit.edu	37	9	130866086	130866087	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:130866086_130866087insC	ENST00000373066.5	+	6	1116_1117	c.709_710insC	c.(709-711)cccfs	p.P237fs	SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.P102fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.P225fs|SLC25A25_ENST00000373064.5_Frame_Shift_Ins_p.P205fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.P239fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.P251fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	205					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AACCTGCACGGCCCCCCTGGAC	0.639													16	95	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtacfs	p.VY959fs	ERCC6_ENST00000542458.1_Frame_Shift_Del_p.VY329fs|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	959	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.550								Direct reversal of damage;Nucleotide excision repair (NER)					8	298	---	---	---	---					
TCF7L2	6934	broad.mit.edu	37	10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-	rs61724286		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gafs	p.D541fs	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal								49	188	---	---	---	---					
TRIM5	85363	broad.mit.edu	37	11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000305836.5	-	8	1471_1472	c.1169_1170insA	c.(1168-1170)agafs	p.R390fs	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.R390fs|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421													11	223	---	---	---	---					
CCDC92	80212	broad.mit.edu	37	12	124422263	124422263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:124422263delT	ENST00000545135.1	-	3	3583	c.287delA	c.(286-288)acfs	p.N96fs	CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.N113fs			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	113										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GATCATCGCGTTTTTCTGCTC	0.463													33	415	---	---	---	---					
ESRRAP2	0	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61																											GATGGACTGAGGCGAGGGGTGGGACT	0.646													5	5	---	---	---	---					
HOMEZ	57594	broad.mit.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)tafs	p.L376fs	HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488													22	91	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	9	---	---	---	---					
SNRPN	6638	broad.mit.edu	37	15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000444203.2	+	7	1715	c.676delC	c.(676-678)ccfs	p.P229fs	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome				14	256	---	---	---	---					
HMGN2P46	0	broad.mit.edu	37	15	45829639	45829640	+	RNA	INS	-	-	A			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:45829639_45829640insA	ENST00000409454.1	+	0	682																											AGAAGACTTGGAAAAAAATATA	0.361													3	3	---	---	---	---					
IDH3A	3419	broad.mit.edu	37	15	78455875	78455875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:78455875delA	ENST00000299518.2	+	7	721	c.638delA	c.(637-639)cafs	p.Q213fs	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	213					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CTTTTTCTACAAAAATGCAGG	0.303													7	147	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077919	32077920	+	RNA	INS	-	-	TTT	rs4026454	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:32077919_32077920insTTT	ENST00000566806.1	-	0	499																											GAAAACGGTTATTTTTTTGTTC	0.426													2	4	---	---	---	---					
AC015922.5	0	broad.mit.edu	37	17	15737072	15737073	+	RNA	INS	-	-	TTTA	rs71838018		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:15737072_15737073insTTTA	ENST00000584636.1	+	0	316																											CTCTATCCTGCTTTATCTTGGA	0.460													2	4	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56246441	56246442	+	Frame_Shift_Ins	INS	-	-	C	rs12606191	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:56246441_56246442insC	ENST00000361673.3	-	4	1779_1780	c.1566_1567insG	c.(1564-1569)ggaggafs	p.G523fs	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	523							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CATAAGTCCTTTCCCCCCACTC	0.520											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	286	---	---	---	---					
KIR2DL4	0	broad.mit.edu	37	19	55324675	55324675	+	Frame_Shift_Del	DEL	A	A	-	rs148484482		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:55324675delA	ENST00000396284.2	+	6	796	c.796delA	c.(796-798)aafs	p.K268fs	KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.M271fs*>3(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532													2	4	---	---	---	---					
