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
GBP7	388646	broad.mit.edu	37	1	89618020	89618020	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:89618020C>T	ENST00000294671.2	-	5	694	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	186						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AACTTCAGCTCCAGGGTAAAA	0.478000													6	227					0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7579310	7579310	+	Splice_Site	SNP	A	A	T	rs68140816		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:7579310A>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGGCAACTGACCGTGCAAGT	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			56	81					0	0	0.014410	0	0
GCAT	23464	broad.mit.edu	37	22	38212212	38212212	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr22:38212212G>A	ENST00000323205.6	+	8	1133	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	GCAT_ENST00000248924.6_Missense_Mutation_p.R331H	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	331					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CACAGGTTCCGTAGTAAGATG	0.612000													26	60					0	0	0.037714	0	0
XIAP	331	broad.mit.edu	37	X	123040864	123040864	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:123040864C>T	ENST00000371199.3	+	7	1626	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	XIAP_ENST00000434753.3_Missense_Mutation_p.R443C|XIAP_ENST00000355640.3_Missense_Mutation_p.R443C|XIAP_ENST00000468691.1_3'UTR	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	443					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCAGCTAAGGCGCCTGCAAGA	0.343000									X-linked Lymphoproliferative syndrome				37	33					0	0	0.023175	0	0
DHX9	1660	broad.mit.edu	37	1	182827949	182827949	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:182827949G>A	ENST00000367549.3	+	10	1092	c.982G>A	c.(982-984)Ggt>Agt	p.G328S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	328					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAACCAAGTGGGTGTGGTTCC	0.438000													48	127					0	0	0.014410	0	0
FOLH1B	219595	broad.mit.edu	37	11	89413808	89413808	+	RNA	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:89413808A>G	ENST00000532352.1	+	0	1293							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.P160P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTGTACACCACTGATGTACA	0.294000													6	70					0	0	0.021553	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391502	3391502	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:3391502C>T	ENST00000324266.5	+	2	303	c.108C>T	c.(106-108)atC>atT	p.I36I	TRAPPC12_ENST00000382110.2_Silent_p.I36I	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	36							binding										AGGAAACCATCGATCTTGGCG	0.652000													6	20					0	0	0.021553	0	0
UNC5C	8633	broad.mit.edu	37	4	96256707	96256707	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:96256707T>C	ENST00000453304.1	-	2	548	c.200A>G	c.(199-201)gAg>gGg	p.E67G	UNC5C_ENST00000506749.1_Missense_Mutation_p.E67G|UNC5C_ENST00000504962.1_Missense_Mutation_p.E67G	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	67	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTCTTCAGGCTCAATAAGGAA	0.418000													3	140					0	0	0.004672	0	0
TBC1D31	93594	broad.mit.edu	37	8	124156985	124156985	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:124156985G>A	ENST00000287380.1	+	20	2954	c.2864G>A	c.(2863-2865)cGt>cAt	p.R955H	TBC1D31_ENST00000309336.3_Missense_Mutation_p.R890H|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R859H|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R850H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R832H|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R509H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AAAGAGTTCCGTTTGAGATCA	0.358000													24	101					0	0	0.024334	0	0
BTBD7	55727	broad.mit.edu	37	14	93717956	93717956	+	Missense_Mutation	SNP	G	G	A	rs147262200	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:93717956G>A	ENST00000334746.5	-	8	2102	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	BTBD7_ENST00000393170.2_Missense_Mutation_p.R173C|BTBD7_ENST00000554565.1_Missense_Mutation_p.R248C	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	599										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ATTCGCAAGCGCACAAGATCC	0.438000													5	327					0	0	0.014758	0	0
LRIF1	55791	broad.mit.edu	37	1	111495337	111495337	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:111495337G>C	ENST00000369763.4	-	2	559	c.169C>G	c.(169-171)Cca>Gca	p.P57A	LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGAACTAGTGGTATAAGATTT	0.398000													22	99					0	0	0.012319	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215772	130215772	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:130215772C>G	ENST00000276211.5	+	2	478	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R33G	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	45					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAACCCCGACCGCAGGACGAA	0.547000													73	143					0	0	0.014410	0	0
SCAI	286205	broad.mit.edu	37	9	127734036	127734036	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:127734036C>T	ENST00000336505.5	-	16	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	SCAI_ENST00000373549.4_Missense_Mutation_p.R519H	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	496					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TAGGCCTCTGCGCATGCTTGA	0.423000													53	163					0	0	0.014410	0	0
DDN	23109	broad.mit.edu	37	12	49391990	49391990	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391990C>T	ENST00000421952.2	-	2	690	c.669G>A	c.(667-669)cgG>cgA	p.R223R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	223	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						AGGGTGGCGGCCGGTCCCAGC	0.701000													3	61					0	0	0.004672	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863009	30863009	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:30863009A>C	ENST00000251071.5	-	18	3961	c.3211T>G	c.(3211-3213)Ttg>Gtg	p.L1071V	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.L1021V|CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.L737V	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1071	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GCTGATACCAAGACCTCTTCA	0.443000													35	124					0	0	0.017118	0	0
CACNA1A	773	broad.mit.edu	37	19	13366020	13366020	+	Silent	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:13366020C>A	ENST00000360228.5	-	29	4643	c.4644G>T	c.(4642-4644)ccG>ccT	p.P1548P	CACNA1A_ENST00000573710.2_Silent_p.P1549P	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1549					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCTTGTTCTGCGGCATGTGTC	0.607000													3	38					0.004672	0.00508645	0.004672	1	0
TDGF1P3	6998	broad.mit.edu	37	X	109764228	109764228	+	RNA	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:109764228C>T	ENST00000602699.1	+	0	689					NR_002718.2																						CTGGGGAACGCGAATTTCTCA	0.468000													8	11					0	0	0.003080	0	0
CMYA5	202333	broad.mit.edu	37	5	79032114	79032114	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:79032114A>T	ENST00000446378.2	+	2	7557	c.7526A>T	c.(7525-7527)aAa>aTa	p.K2509I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2509						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGAATCAAAAGCCGATGCT	0.368000													22	81					0	0	0.014323	0	0
DDN	23109	broad.mit.edu	37	12	49391856	49391856	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:49391856C>T	ENST00000421952.2	-	2	824	c.803G>A	c.(802-804)cGc>cAc	p.R268H		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	268						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTTCTTTGTGCGCCCTCCGTC	0.652000													5	158					0	0	0.014758	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77387771	77387771	+	Silent	SNP	C	C	A	rs148669189		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:77387771C>A	ENST00000282849.5	-	10	1891	c.1473G>T	c.(1471-1473)gcG>gcT	p.A491A		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	491	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTAGACACCCCGCCTGAGGTG	0.418000													57	226					2.67592e-24	3.37616e-24	0.014410	1	0
OR5M10	390167	broad.mit.edu	37	11	56345153	56345153	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56345153T>C	ENST00000526812.2	-	1	110	c.45A>G	c.(43-45)ttA>ttG	p.L15L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CTGTCAGTCCTAAGAGAATGA	0.458000													7	149					0	0	0.010729	0	0
MSH4	4438	broad.mit.edu	37	1	76378560	76378560	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:76378560G>T	ENST00000263187.3	+	20	2903	c.2799G>T	c.(2797-2799)aaG>aaT	p.K933N		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	933					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCCAGAAAAGACTGAAGAAT	0.303000								Mismatch excision repair (MMR)					9	38					1.33987e-11	1.60073e-11	0.008291	1	0
TMEM80	283232	broad.mit.edu	37	11	703061	703061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:703061G>A	ENST00000397512.3	+	5	504	c.394G>A	c.(394-396)Gcg>Acg	p.A132T	TMEM80_ENST00000397510.2_Missense_Mutation_p.A140T|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.1|NP_777600.2	Q96HE8	TMM80_HUMAN	transmembrane protein 80	140						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGTTGTGGGCGGACTGGGC	0.697000													30	61					0	0	0.017118	0	0
GBF1	8729	broad.mit.edu	37	10	104118286	104118286	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:104118286C>T	ENST00000369983.3	+	10	1071	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	271					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATTGATGTGCCCACTCCCAT	0.517000													4	145					0	0	0.009096	0	0
OR5M1	390168	broad.mit.edu	37	11	56380883	56380883	+	Silent	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380883A>C	ENST00000526538.1	-	1	95	c.96T>G	c.(94-96)ctT>ctG	p.L32L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GGTAGATCGCAAGGAATACCC	0.493000													10	124					0	0	0.010504	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685920	125685920	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642000													33	33					0	0	0.010818	0	0
SPTB	6710	broad.mit.edu	37	14	65262141	65262141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:65262141G>A	ENST00000389722.3	-	11	1611	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	SPTB_ENST00000556626.1_Missense_Mutation_p.R520W|SPTB_ENST00000389721.5_Missense_Mutation_p.R520W|SPTB_ENST00000542895.1_Missense_Mutation_p.R520W|SPTB_ENST00000389720.3_Missense_Mutation_p.R520W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	520					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTCTGGCGCCGGGACTGCAGC	0.602000													32	80					0	0	0.021022	0	0
GPR179	440435	broad.mit.edu	37	17	36485440	36485440	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:36485440G>A	ENST00000342292.4	-	11	4032	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1338						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCAGGGTCCTGAGGAGCTGAC	0.612000													36	134					0	0	0.019004	0	0
CABLES1	91768	broad.mit.edu	37	18	20833900	20833900	+	Splice_Site	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:20833900C>T	ENST00000256925.7	+	9	1761	c.1761_splice	c.e9+1	p.D587_splice	CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Splice_Site_p.D322_splice|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Splice_Site_p.D260_splice	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	587					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTTAATTGACGTAAGTAGCC	0.507000													19	60					0	0	0.007413	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717097	13717097	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:13717097G>A	ENST00000279593.3	-	13	3284	c.3075C>T	c.(3073-3075)atC>atT	p.I1025I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1025					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGAGGCCGATGTCCAGGG	0.587000													19	56					0	0	0.008871	0	0
ZNF687	57592	broad.mit.edu	37	1	151260750	151260750	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151260750G>A	ENST00000368879.2	+	2	2081	c.1983G>A	c.(1981-1983)ccG>ccA	p.P661P		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGAGCCGCCTGCTGCCC	0.637000													18	54					0	0	0.015359	0	0
IFT88	8100	broad.mit.edu	37	13	21219018	21219018	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:21219018G>A	ENST00000382778.4	+	21	3015	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	IFT88_ENST00000351808.5_Missense_Mutation_p.E624K|IFT88_ENST00000319980.6_Missense_Mutation_p.E633K|IFT88_ENST00000537103.1_Missense_Mutation_p.E605K			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	633					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGAAGTCATTGAGTGGCTTGG	0.308000													36	149					0	0	0.030466	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510064	120510064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:120510064C>G	ENST00000256646.2	-	8	1664	c.1445G>C	c.(1444-1446)tGc>tCc	p.C482S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	482	EGF-like 12; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C482F(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTGGCATGCACAGACATGT	0.488000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				85	247					0	0	0.014410	0	0
RNF10	9921	broad.mit.edu	37	12	120995094	120995094	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:120995094A>G	ENST00000325954.4	+	5	1116	c.655A>G	c.(655-657)Agc>Ggc	p.S219G	RNF10_ENST00000413266.2_Missense_Mutation_p.S219G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	219					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGCATTTGTAGCCATGAAGT	0.483000													3	212					0	0	0.004672	0	0
TPTE2	93492	broad.mit.edu	37	13	19997299	19997299	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:19997299C>A	ENST00000400230.2	-	20	1516	c.1472G>T	c.(1471-1473)tGt>tTt	p.C491F	TPTE2_ENST00000400103.2_Missense_Mutation_p.C380F|TPTE2_ENST00000255310.6_Missense_Mutation_p.C414F|TPTE2_ENST00000457266.2_Missense_Mutation_p.C380F|TPTE2_ENST00000382978.1_Missense_Mutation_p.C451F|TPTE2_ENST00000390680.2_Missense_Mutation_p.C414F|TPTE2_ENST00000382977.4_Missense_Mutation_p.C491F|TPTE2_ENST00000382975.4_Missense_Mutation_p.C451F			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	491	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCTTGGTAGACAAAGCCTAAG	0.353000													10	89					2.17888e-05	2.45124e-05	0.006214	1	0
MAT2A	4144	broad.mit.edu	37	2	85769823	85769823	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:85769823G>A	ENST00000306434.3	+	7	1027	c.904G>A	c.(904-906)Gca>Aca	p.A302T	MAT2A_ENST00000409017.1_Missense_Mutation_p.A239T	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	302					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCGTTGGGTGGCAAAATCCCT	0.478000													4	112					0	0	0.014758	0	0
RAB7A	7879	broad.mit.edu	37	3	128526498	128526498	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:128526498G>A	ENST00000265062.3	+	5	758	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	RAB7A_ENST00000485280.1_Intron|RAB7A_ENST00000482525.1_Missense_Mutation_p.R124Q	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	171					endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ACGATTGCACGGAATGCACTT	0.577000													4	234					0	0	0.009096	0	0
ZNF768	79724	broad.mit.edu	37	16	30537133	30537133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:30537133G>A	ENST00000380412.5	-	2	503	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	ZNF768_ENST00000562803.1_Nonsense_Mutation_p.Q79*	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	110	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TCAGGGCTCTGAGAATCTGAT	0.592000													61	172					0	0	0.014410	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636105	139636105	+	Splice_Site	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:139636105A>T	ENST00000263552.6	+	9	990	c.453_splice	c.e9+1	p.E151_splice	TBXAS1_ENST00000414508.2_Splice_Site_p.E151_splice|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Splice_Site_p.E150_splice|TBXAS1_ENST00000336425.5_Splice_Site_p.E150_splice|TBXAS1_ENST00000411653.1_Splice_Site_p.E150_splice|TBXAS1_ENST00000425687.1_Splice_Site_p.E83_splice|TBXAS1_ENST00000458722.1_Splice_Site_p.E150_splice|TBXAS1_ENST00000416849.2_Splice_Site_p.E151_splice|TBXAS1_ENST00000436047.2_Splice_Site_p.E151_splice	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	150					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAGCTGAACGAGGTAAGACAT	0.473000													92	288					0	0	0.014410	0	0
EPHB1	2047	broad.mit.edu	37	3	134885846	134885846	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:134885846G>T	ENST00000398015.3	+	9	2127	c.1757G>T	c.(1756-1758)cGa>cTa	p.R586L	EPHB1_ENST00000493838.1_Missense_Mutation_p.R147L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	586						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCACAGGCCGAGGTAAGTAG	0.547000													89	420					1.59228e-47	2.08697e-47	0.014410	1	0
RC3H1	149041	broad.mit.edu	37	1	173934116	173934116	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:173934116G>T	ENST00000367696.2	-	10	1828	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	RC3H1_ENST00000258349.4_Missense_Mutation_p.L493M|RC3H1_ENST00000367694.2_Missense_Mutation_p.L493M			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	493					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CCATTTGGCAGAGCAGGAGGT	0.483000													59	150					2.79145e-41	3.58901e-41	0.014410	1	0
AGBL5	60509	broad.mit.edu	37	2	27278587	27278587	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278587C>T	ENST00000360131.4	+	7	1105	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	AGBL5_ENST00000323064.8_Silent_p.L316L	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	316					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGTCAGTACCTGAAGCCTGA	0.542000													25	137					0	0	0.024334	0	0
AOAH	313	broad.mit.edu	37	7	36552720	36552720	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:36552720G>C	ENST00000431169.1	-	22	2285	c.1985C>G	c.(1984-1986)tCt>tGt	p.S662C	AOAH_ENST00000538464.1_3'UTR|AOAH_ENST00000535891.1_3'UTR|AOAH_ENST00000258749.5_3'UTR	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTTCATTGAGAGAAAGACAT	0.498000													14	30					0	0	0.016723	0	0
PTK2	5747	broad.mit.edu	37	8	141856357	141856357	+	Splice_Site	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141856357A>G	ENST00000522684.1	-	7	823		c.e7+1		PTK2_ENST00000519419.1_Splice_Site|PTK2_ENST00000521059.1_Splice_Site|PTK2_ENST00000340930.3_Splice_Site|PTK2_ENST00000517887.1_Splice_Site|PTK2_ENST00000395218.2_Splice_Site|PTK2_ENST00000535192.1_Splice_Site	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TACAATACTTACTCTAATACT	0.303000													27	124					0	0	0.034045	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192727	132192727	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:132192727G>T	ENST00000359827.3	-	2	1688	c.726C>A	c.(724-726)atC>atA	p.I242I	PLXNA4_ENST00000378539.5_Silent_p.I242I|PLXNA4_ENST00000321063.4_Silent_p.I242I|PLXNA4_ENST00000423507.2_Silent_p.I242I			Q9HCM2	PLXA4_HUMAN	plexin A4	242	Sema.					integral to membrane|intracellular|plasma membrane		p.I242I(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGACATAGTAGATATCAAAGT	0.498000													20	89					1.01871e-10	1.20637e-10	0.008871	1	0
SLU7	10569	broad.mit.edu	37	5	159831502	159831502	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:159831502C>T	ENST00000297151.4	-	15	1913	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	509					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGCTCTTTCGATGcttctt	0.323000													16	104					0	0	0.024245	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557444	62557444	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:62557444G>A	ENST00000333449.4	+	5	590	c.585G>A	c.(583-585)cgG>cgA	p.R195R	TMEM223_ENST00000307366.7_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	195						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCCATACCGGCCTCTGGAGA	0.557000													75	232					0	0	0.014410	0	0
MUC16	94025	broad.mit.edu	37	19	9059514	9059514	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:9059514C>A	ENST00000397910.4	-	3	28135	c.27932G>T	c.(27931-27933)aGt>aTt	p.S9311I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9313	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGGGCACACTAGAAAGGAC	0.498000													5	275					0.000602214	0.000666385	0.014758	1	0
ABCA5	23461	broad.mit.edu	37	17	67310534	67310534	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:67310534A>G	ENST00000392676.3	-	2	87	c.23T>C	c.(22-24)gTa>gCa	p.V8A	ABCA5_ENST00000588877.1_Missense_Mutation_p.V8A|ABCA5_ENST00000392677.2_Missense_Mutation_p.V8A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	8					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCAAACTCCTACCTCCCTAAT	0.358000													5	208					0	0	0.021553	0	0
OR5M1	390168	broad.mit.edu	37	11	56380889	56380889	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:56380889T>C	ENST00000526538.1	-	1	89	c.90A>G	c.(88-90)gtA>gtG	p.V30V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCGCAAGGAATACCCCAAACA	0.478000													13	127					0	0	0.012319	0	0
CLUAP1	23059	broad.mit.edu	37	16	3554771	3554771	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:3554771A>G	ENST00000571025.1	+	2	124	c.74A>G	c.(73-75)gAa>gGa	p.E25G	LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E25G|CLUAP1_ENST00000576634.1_Missense_Mutation_p.E25G|CLUAP1_ENST00000417763.2_5'UTR			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	25						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ATTTCTATGGAAAATTTCCGT	0.413000													23	100					0	0	0.018920	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620389	80620389	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:80620389T>C	ENST00000466387.1	+	12	1834	c.1110T>C	c.(1108-1110)acT>acC	p.T370T	CTNNA2_ENST00000541047.1_Silent_p.T370T|CTNNA2_ENST00000496558.1_Silent_p.T370T|CTNNA2_ENST00000343114.3_Silent_p.T49T|CTNNA2_ENST00000402739.4_Silent_p.T370T|CTNNA2_ENST00000540488.1_Silent_p.T370T|CTNNA2_ENST00000361291.4_Silent_p.T404T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	370					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ATAAGATGACTAAGAAAACAA	0.318000													56	158					0	0	0.014410	0	0
TRIM39	56658	broad.mit.edu	37	6	30309645	30309645	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:30309645C>T	ENST00000376659.5	+	8	1674	c.1076C>T	c.(1075-1077)aCc>aTc	p.T359I	TRIM39_ENST00000376656.4_Missense_Mutation_p.T389I|TRIM39_ENST00000396548.1_Missense_Mutation_p.T359I|TRIM39_ENST00000396551.3_Missense_Mutation_p.T359I|TRIM39_ENST00000540416.1_Missense_Mutation_p.T359I|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.T271I|TRIM39_ENST00000396547.1_Missense_Mutation_p.T389I	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GAGGGTTTCACCTCAGGTCGA	0.592000													22	94					0	0	0.021523	0	0
TBC1D20	128637	broad.mit.edu	37	20	419364	419364	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr20:419364T>A	ENST00000354200.4	-	8	1225	c.1078A>T	c.(1078-1080)Acc>Tcc	p.T360S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	360					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CTTGGCTTGGTCAGGACATCT	0.567000													91	227					0	0	0.014410	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964777	32964777	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:32964777G>A	ENST00000321639.5	+	10	2809	c.2481G>A	c.(2479-2481)cgG>cgA	p.R827R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	827						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCGCTACCGGCACAAGCGCA	0.627000													4	224					0	0	0.021553	0	0
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547000													5	228					0	0	0.014758	0	0
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:77710932C>A	ENST00000328313.5	+	4	1340	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	373					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.F373L(5)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607000													4	143					0.014758	0.0158121	0.014758	1	0
CYP46A1	10858	broad.mit.edu	37	14	100188342	100188342	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:100188342G>A	ENST00000554176.1	+	7	1322	c.656G>A	c.(655-657)cGc>cAc	p.R219H	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R275H|CYP46A1_ENST00000261835.3_Missense_Mutation_p.R372H			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	372					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCACCTTTCGCCTGCTGGAA	0.622000													45	123					0	0	0.036044	0	0
TMEM63B	55362	broad.mit.edu	37	6	44117677	44117677	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:44117677G>T	ENST00000259746.9	+	16	1678	c.1495G>T	c.(1495-1497)Gcc>Tcc	p.A499S	TMEM63B_ENST00000323267.6_Missense_Mutation_p.A499S			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	499						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTACTACTCAGCCTTCTTTGA	0.602000													11	23					1.41608e-15	1.72226e-15	0.016723	1	0
RLF	6018	broad.mit.edu	37	1	40668129	40668129	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:40668129G>A	ENST00000372771.4	+	5	680	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	218					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CTGCAAATGCGAATAAAACAT	0.333000													21	88					0	0	0.018920	0	0
CCDC77	84318	broad.mit.edu	37	12	539877	539877	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:539877G>C	ENST00000239830.4	+	7	737	c.558G>C	c.(556-558)caG>caC	p.Q186H	CCDC77_ENST00000422000.1_Missense_Mutation_p.Q154H|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Missense_Mutation_p.Q154H|CCDC77_ENST00000540180.1_Missense_Mutation_p.Q154H	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	186						centrosome				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AATGTGAGCAGAGTGAATCTT	0.408000													67	252					0	0	0.014410	0	0
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	rs3199677	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr9:86482718G>A	ENST00000297814.2	-	13	2958	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	RP11-575L7.4_ENST00000586211.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R873C|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Intron|RP11-575L7.4_ENST00000421734.3_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	939					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R939C(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373000													18	158					0	0	0.030593	0	0
AAAS	8086	broad.mit.edu	37	12	53715239	53715239	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:53715239A>C	ENST00000209873.4	-	1	176	c.11T>G	c.(10-12)cTg>cGg	p.L4R	AAAS_ENST00000394384.3_Missense_Mutation_p.L4R|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	4					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAACAACCCCAGAGAGCACAT	0.622000											OREG0021865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	239					0	0	0.014410	0	0
NR3C2	4306	broad.mit.edu	37	4	149357399	149357399	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:149357399C>A	ENST00000355292.3	-	2	976	c.614G>T	c.(613-615)tGc>tTc	p.C205F	NR3C2_ENST00000358102.3_Missense_Mutation_p.C205F|NR3C2_ENST00000342437.4_Missense_Mutation_p.C205F|NR3C2_ENST00000511528.1_Missense_Mutation_p.C205F|NR3C2_ENST00000512865.1_Missense_Mutation_p.C205F|NR3C2_ENST00000344721.4_Missense_Mutation_p.C205F			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	205	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGCAGGGCTGCAAACCGAAGA	0.537000													30	95					7.38237e-10	8.66626e-10	0.030593	1	0
ALPK3	57538	broad.mit.edu	37	15	85384098	85384098	+	Silent	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr15:85384098C>A	ENST00000258888.5	+	5	2361	c.2194C>A	c.(2194-2196)Cgg>Agg	p.R732R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	732					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCCTGCCCGGCGGAGACA	0.647000													28	48					4.7796e-09	5.51493e-09	0.024334	1	0
SLC23A1	9963	broad.mit.edu	37	5	138714989	138714989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:138714989G>A	ENST00000353963.3	-	9	1030	c.992C>T	c.(991-993)gCc>gTc	p.A331V	SLC23A1_ENST00000348729.3_Missense_Mutation_p.A327V	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	327					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	TGCCAGAGTGGCGCTGAACAT	0.607000													34	78					0	0	0.010818	0	0
MBIP	51562	broad.mit.edu	37	14	36783737	36783737	+	Silent	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:36783737A>G	ENST00000416007.4	-	4	639	c.552T>C	c.(550-552)aaT>aaC	p.N184N	MBIP_ENST00000318473.7_Silent_p.N184N|MBIP_ENST00000359527.7_Silent_p.N184N	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	184	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		AATCAATAACATTGCAAAATT	0.279000													13	44					0	0	0.013537	0	0
HLA-C	3107	broad.mit.edu	37	6	31238903	31238903	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:31238903A>T	ENST00000383329.3	-	3	580	c.566T>A	c.(565-567)gTg>gAg	p.V189E	HLA-C_ENST00000376228.5_Missense_Mutation_p.V189E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	189	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GAGCCACTCCACGCACGTGCC	0.677000													4	65					0	0	0.021553	0	0
AGBL5	60509	broad.mit.edu	37	2	27278581	27278581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:27278581C>A	ENST00000360131.4	+	7	1099	c.940C>A	c.(940-942)Cag>Aag	p.Q314K	AGBL5_ENST00000323064.8_Missense_Mutation_p.Q314K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	314					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGAACCGTCAGTACCTGAA	0.537000													24	134					1.55469e-16	1.90803e-16	0.018920	1	0
MT1HL1	645745	broad.mit.edu	37	1	237167512	237167512	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:237167512G>A	ENST00000464121.2	-	1	206	c.161C>T	c.(160-162)tCg>tTg	p.S54L		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1																		GCACTTTTCCGAAGCCCCTTT	0.547000													15	51					0	0	0.010504	0	0
OTOGL	283310	broad.mit.edu	37	12	80749653	80749653	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:80749653C>A	ENST00000458043.2	+	46	5710	c.5704C>A	c.(5704-5706)Cca>Aca	p.P1902T	OTOGL_ENST00000547103.1_Missense_Mutation_p.P1890T	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAGCCCACGCCAGTTTGTGA	0.433000													75	202					2.97807e-44	3.86576e-44	0.014410	1	0
CUBN	8029	broad.mit.edu	37	10	16911647	16911647	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr10:16911647G>A	ENST00000377833.4	-	59	9507	c.9442C>T	c.(9442-9444)Cgg>Tgg	p.R3148W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3148	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTGCCGGAAAGACATC	0.463000													5	411					0	0	0.021553	0	0
FAM71F1	84691	broad.mit.edu	37	7	128359088	128359088	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:128359088C>T	ENST00000315184.5	+	3	691	c.638C>T	c.(637-639)aCg>aTg	p.T213M	FAM71F1_ENST00000485070.1_Missense_Mutation_p.T114M|FAM71F1_ENST00000469348.1_3'UTR	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	213										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATTCTTGTCACGCACTGCCTG	0.537000													5	214					0	0	0.014758	0	0
FSHR	2492	broad.mit.edu	37	2	49190547	49190547	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:49190547G>T	ENST00000406846.2	-	10	1532	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	FSHR_ENST00000541117.1_Silent_p.I207I|FSHR_ENST00000346173.3_Silent_p.I409I|FSHR_ENST00000304421.4_Silent_p.I445I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	471					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGCATGCGTGATGGTATGCC	0.542000									Gonadal Dysgenesis, 46 XX				16	46					6.31663e-08	7.22665e-08	0.024245	1	0
KCNQ5	56479	broad.mit.edu	37	6	73900382	73900382	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:73900382C>A	ENST00000342056.2	+	13	2119	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	KCNQ5_ENST00000414165.2_Missense_Mutation_p.A445D|KCNQ5_ENST00000403813.2_Missense_Mutation_p.A546D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.A565D|KCNQ5_ENST00000370398.1_Missense_Mutation_p.A555D|KCNQ5_ENST00000355635.3_Missense_Mutation_p.A556D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.A555D	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	555					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAATATTCTGCTGGTCATCTG	0.353000													29	81					1.16021e-09	1.35024e-09	0.034045	1	0
C14orf93	60686	broad.mit.edu	37	14	23459034	23459034	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr14:23459034A>G	ENST00000299088.6	-	5	1430	c.1001T>C	c.(1000-1002)aTt>aCt	p.I334T	RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.I334T|C14orf93_ENST00000397377.1_Missense_Mutation_p.I154T|C14orf93_ENST00000397379.3_Missense_Mutation_p.I334T|C14orf93_ENST00000397382.4_Missense_Mutation_p.I334T|C14orf93_ENST00000341470.4_Missense_Mutation_p.I334T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	334						extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CACTACTGAAATATTCCAAGA	0.418000													37	96					0	0	0.023175	0	0
GPR98	84059	broad.mit.edu	37	5	90106533	90106533	+	Silent	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:90106533T>C	ENST00000405460.2	+	74	15552	c.15456T>C	c.(15454-15456)ccT>ccC	p.P5152P	GPR98_ENST00000425867.2_Silent_p.P813P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5152					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCTCATTCCTGTAGAAACTG	0.458000													85	237					0	0	0.014410	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66518980	66518980	+	Silent	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:66518980C>A	ENST00000589228.1	+	3	389	c.261C>A	c.(259-261)ccC>ccA	p.P87P	PRKAR1A_ENST00000536854.2_Silent_p.P87P|PRKAR1A_ENST00000588188.2_Silent_p.P87P|PRKAR1A_ENST00000392711.1_Silent_p.P87P|PRKAR1A_ENST00000586397.1_Silent_p.P87P|PRKAR1A_ENST00000358598.2_Silent_p.P87P	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	87	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTCCACCCAACCCAGTGG	0.488000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				4	126					0.000602214	0.000666385	0.014758	1	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	170					0	0	0.021553	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398238	57398238	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:57398238G>A	ENST00000300101.2	-	2	549	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TTCTCCAAGGGGATGGGCAGG	0.552000													79	151					0	0	0.014410	0	0
C18orf8	29919	broad.mit.edu	37	18	21098936	21098936	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr18:21098936C>T	ENST00000269221.3	+	8	846	c.736C>T	c.(736-738)Cta>Tta	p.L246L	C18orf8_ENST00000590868.1_Silent_p.L198L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	246										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCTCTATCATCTACCACGGTA	0.433000													29	101					0	0	0.034045	0	0
GPR45	11250	broad.mit.edu	37	2	105858867	105858867	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:105858867G>T	ENST00000258456.1	+	1	668	c.552G>T	c.(550-552)ctG>ctT	p.L184L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	184						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AGTGCGTGCTGGGCTACACGG	0.687000													9	38					0.00829132	0.00895462	0.008291	1	0
IFT80	57560	broad.mit.edu	37	3	160025482	160025482	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:160025482C>A	ENST00000326448.7	-	10	1477	c.1045G>T	c.(1045-1047)Gtt>Ttt	p.V349F	IFT80_ENST00000483465.1_Missense_Mutation_p.V212F|IFT80_ENST00000496589.1_Missense_Mutation_p.V212F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V520F	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	349						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACGTTGAAACAACTAAGTGT	0.358000													27	61					5.61819e-17	6.95831e-17	0.027356	1	0
MAF	4094	broad.mit.edu	37	16	79633679	79633679	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:79633679G>A	ENST00000393350.1	-	1	932	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	MAF_ENST00000326043.4_Missense_Mutation_p.R41C|MAF_ENST00000569649.1_Missense_Mutation_p.R41C	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CTGATGATGCGGTCGGTCTCC	0.607000			T	IGH@	MM								19	55					0	0	0.012319	0	0
ZNF222	7673	broad.mit.edu	37	19	44536829	44536829	+	Silent	SNP	C	C	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:44536829C>G	ENST00000187879.8	+	4	1164	c.1002C>G	c.(1000-1002)gtC>gtG	p.V334V	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.V374V	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				ATCAACGAGTCCACACTGGAG	0.428000													48	194					0	0	0.014410	0	0
OBSCN	84033	broad.mit.edu	37	1	228480267	228480267	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:228480267C>T	ENST00000570156.2	+	45	12008	c.11934C>T	c.(11932-11934)gcC>gcT	p.A3978A	OBSCN_ENST00000366707.4_Silent_p.A668A|OBSCN_ENST00000359599.6_Silent_p.A2396A|OBSCN_ENST00000284548.11_Silent_p.A3549A|OBSCN_ENST00000422127.1_Silent_p.A3549A|OBSCN_ENST00000366709.4_Silent_p.A668A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3016	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCAGGAGGCCAGAGAAGGGG	0.552000													4	216					0	0	0.021553	0	0
CACNG5	27091	broad.mit.edu	37	17	64881045	64881045	+	Silent	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:64881045G>A	ENST00000169565.3	+	4	837	c.837G>A	c.(835-837)agG>agA	p.R279R	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCAGCCAAGGGAGATGAGGC	0.632000													32	108					0	0	0.017118	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26251971	26251971	+	Silent	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:26251971A>G	ENST00000356350.2	+	1	93	c.93A>G	c.(91-93)aaA>aaG	p.K31K		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	31					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						AGAAGCGTAAACGCAGCCGCA	0.557000													62	206					0	0	0.014410	0	0
GRID2	2895	broad.mit.edu	37	4	94138038	94138038	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr4:94138038G>T	ENST00000282020.4	+	6	1197	c.939G>T	c.(937-939)aaG>aaT	p.K313N	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.K218N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	313					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGATCCAAAGGATCCATTTG	0.418000													52	179					4.33383e-22	5.41729e-22	0.014410	1	0
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G	rs149467954	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657000													3	64					0	0	0.009096	0	0
ADCY8	114	broad.mit.edu	37	8	131949376	131949376	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:131949376C>T	ENST00000286355.5	-	5	3516	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Missense_Mutation_p.R475H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	475					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGGTCCTGGCGGGGCTCAGG	0.507000										HNSCC(32;0.087)			25	131					0	0	0.018920	0	0
GLI2	2736	broad.mit.edu	37	2	121747898	121747898	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:121747898C>T	ENST00000452319.1	+	14	4468	c.4408C>T	c.(4408-4410)Cgg>Tgg	p.R1470W	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.R1470W			P10070	GLI2_HUMAN	GLI family zinc finger 2	1470					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAGGTCATGCGGTCCCAGCC	0.637000													5	160					0	0	0.014758	0	0
GPR98	84059	broad.mit.edu	37	5	89943453	89943453	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:89943453C>T	ENST00000405460.2	+	17	3257	c.3161C>T	c.(3160-3162)cCt>cTt	p.P1054L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1054	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATTTCATTCCTGTTGAAAAA	0.423000													41	137					0	0	0.010771	0	0
PTK2	5747	broad.mit.edu	37	8	141678371	141678371	+	Silent	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:141678371C>T	ENST00000522684.1	-	30	3091	c.2862G>A	c.(2860-2862)gtG>gtA	p.V954V	PTK2_ENST00000519419.1_Silent_p.V998V|PTK2_ENST00000517712.1_Silent_p.V17V|PTK2_ENST00000521059.1_Silent_p.V954V|PTK2_ENST00000340930.3_Silent_p.V967V|PTK2_ENST00000430260.2_Silent_p.V264V|PTK2_ENST00000517887.1_Silent_p.V998V|PTK2_ENST00000538769.1_Silent_p.V622V|PTK2_ENST00000395218.2_Silent_p.V967V|PTK2_ENST00000519465.1_Silent_p.V582V|PTK2_ENST00000535192.1_Silent_p.V908V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	954	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATTTTACCTTCACCATAGGGA	0.488000											OREG0019022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	83					0	0	0.012319	0	0
EPHA1	2041	broad.mit.edu	37	7	143088775	143088775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr7:143088775G>T	ENST00000275815.3	-	17	2876	c.2790C>A	c.(2788-2790)taC>taA	p.Y930*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	930	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTGCAGGATGTAGCGTTTCA	0.607000													13	41					1.02788e-11	1.23897e-11	0.033300	1	0
MRPS10	55173	broad.mit.edu	37	6	42185571	42185571	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr6:42185571G>A	ENST00000053468.3	-	1	32	c.17C>T	c.(16-18)gCg>gTg	p.A6V		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	6					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			AGCACCGAACGCTGTCCGCGC	0.597000													12	53					0	0	0.013537	0	0
ZBTB20	26137	broad.mit.edu	37	3	114057937	114057937	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:114057937G>C	ENST00000462705.1	-	12	2743	c.1922C>G	c.(1921-1923)aCt>aGt	p.T641S	ZBTB20_ENST00000464560.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T641S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T714S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T641S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T641S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	714					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGACGTAAGTGGTCCCCTC	0.612000													4	138					0	0	0.014758	0	0
SLFN13	146857	broad.mit.edu	37	17	33772744	33772744	+	Translation_Start_Site	SNP	G	G	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:33772744G>C	ENST00000533791.1	-	0	285				SLFN13_ENST00000542635.1_Intron|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000526861.1_Intron|SLFN13_ENST00000285013.6_Intron			Q68D06	SLN13_HUMAN	schlafen family member 13							intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTTCATTTTTGATTAAAAAAT	0.348000													5	15					0	0	0.014758	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176610	140176610	+	Silent	SNP	G	G	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140176610G>T	ENST00000526136.1	+	1	2061	c.2061G>T	c.(2059-2061)gcG>gcT	p.A687A	PCDHA2_ENST00000520672.2_Silent_p.A687A|PCDHA2_ENST00000378132.1_Silent_p.A687A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														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)			TGGGCGCCGCGGGCTCAGAGG	0.647000													39	152					5.57489e-27	7.1001e-27	0.014410	1	0
PCDHA13	56136	broad.mit.edu	37	5	140261993	140261993	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140261993G>A	ENST00000289272.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R47H|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R47H(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)			TTCGTGGGCCGCATCGCTCAG	0.642000													78	221					0	0	0.014410	0	0
ABLIM3	22885	broad.mit.edu	37	5	148620311	148620311	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:148620311A>G	ENST00000506113.1	+	13	1759	c.1277A>G	c.(1276-1278)cAg>cGg	p.Q426R	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000504238.1_Intron|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000508983.1_Intron|ABLIM3_ENST00000326685.7_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.Q426R|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	426					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTCTTACCAGGCTCCCAAG	0.592000													3	201					0	0	0.004672	0	0
APLF	200558	broad.mit.edu	37	2	68740274	68740274	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:68740274A>G	ENST00000303795.4	+	4	575	c.404A>G	c.(403-405)aAt>aGt	p.N135S		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	135					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CCCGTGATTAATTTACCTCAT	0.358000													55	126					0	0	0.014410	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551170	100551170	+	RNA	SNP	C	C	T			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr12:100551170C>T	ENST00000397112.4	-	0	1893					NR_036632.1															large_intestine(1)|lung(3)	4						TCCAGTTCCTCAACCCTCTCC	0.547000													62	194					0	0	0.014410	0	0
DNAH3	55567	broad.mit.edu	37	16	20959878	20959878	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:20959878T>C	ENST00000261383.3	-	57	11269	c.11270A>G	c.(11269-11271)aAg>aGg	p.K3757R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3757					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATTTCCTTACAGTAGAA	0.527000													3	85					0	0	0.004672	0	0
EPHA2	1969	broad.mit.edu	37	1	16461022	16461023	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:16461022_16461023insA	ENST00000358432.5	-	8	1776_1777	c.1622_1623insT	c.(1621-1623)ggcfs	p.G541fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	541					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CACCGACAGCCACGCCGCCAAT	0.594													18	57	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													8	482	---	---	---	---					
HTRA2	27429	broad.mit.edu	37	2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)ggcfs	p.G18fs	HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.G18fs|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													7	107	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													4	7	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)ggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448													7	839	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			4	5	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651199	1651228	+	In_Frame_Del	DEL	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	-	rs35089393	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	ENST00000399676.2	+	1	167_196	c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC	c.(127-159)ggg>gg	p.GGCGGCGSGCA43del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	43				G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639).		keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg	0.691													22	105	---	---	---	---					
AMPD3	272	broad.mit.edu	37	11	10500152	10500153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr11:10500152_10500153insC	ENST00000396554.3	+	3	669_670	c.328_329insC	c.(328-330)agcfs	p.S110fs	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	101					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGGCCCCCCGGCAGCCAGTCCG	0.589													51	290	---	---	---	---					
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:45580365_45580367delGAT	ENST00000361121.2	+	3	285_287	c.250_252delGAT	c.(250-252)del	p.D88del	KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del|KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA			Q8IXQ4	K1704_HUMAN		88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													8	515	---	---	---	---					
LINC00381	100874151	broad.mit.edu	37	13	74993520	74993535	+	RNA	DEL	CTTCCTTCCTTCCTTT	CTTCCTTCCTTCCTTT	-	rs71870153	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr13:74993520_74993535delCTTCCTTCCTTCCTTT	ENST00000423629.1	+	0	56					NR_047005.1																						ccctcccttccttccttccttcctttcttccttcct	0.542													3	3	---	---	---	---					
CDYL2	124359	broad.mit.edu	37	16	80646543	80646543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr16:80646543delG	ENST00000299564.8	-	5	1353	c.1198delC	c.(1198-1200)agfs	p.Q400fs	CDYL2_ENST00000563890.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000562812.1_Frame_Shift_Del_p.Q401fs|CDYL2_ENST00000566173.1_Frame_Shift_Del_p.Q401fs	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	400						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCCAGGATCTGGGGGAAGGTG	0.627													42	186	---	---	---	---					
TMEM220-AS1	101101775	broad.mit.edu	37	17	10647269	10647270	+	RNA	INS	-	-	CTTC	rs56218112	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr17:10647269_10647270insCTTC	ENST00000583343.1	+	0	144				CTC-297N7.5_ENST00000579114.1_RNA|CTC-297N7.5_ENST00000584714.1_RNA|CTC-297N7.9_ENST00000579529.2_lincRNA|CTC-297N7.5_ENST00000581366.1_RNA|CTC-297N7.5_ENST00000583012.1_RNA|TMEM220-AS1_ENST00000580899.1_RNA																							tccctccttctcttccttcctt	0.416													4	5	---	---	---	---					
CC2D1A	54862	broad.mit.edu	37	19	14029735	14029735	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:14029735delA	ENST00000318003.7	+	10	1270	c.1029delA	c.(1027-1029)ccfs	p.P345fs	CC2D1A_ENST00000589606.1_Frame_Shift_Del_p.P345fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	345	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGA	0.672													15	29	---	---	---	---					
BRD4	23476	broad.mit.edu	37	19	15354252	15354253	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:15354252_15354253insC	ENST00000263377.2	-	14	2848_2849	c.2627_2628insG	c.(2626-2628)cgcfs	p.R876fs		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	876					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGCAGCGGCTCGGTTGCTGGG	0.693			T	C15orf55	lethal midline carcinoma of young people								7	29	---	---	---	---					
CTC-400I9.3	0	broad.mit.edu	37	19	31443058	31443059	+	RNA	INS	-	-	CTCC	rs144141390	by1000genomes	TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr19:31443058_31443059insCTCC	ENST00000587702.1	+	0	92																											tccctccctctctccctccctc	0.465													5	11	---	---	---	---					
AP000345.2	0	broad.mit.edu	37	22	23915257	23915257	+	RNA	DEL	C	C	-	rs151251095		TCGA-CN-4726-01A-01D-1434-08	TCGA-CN-4726-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2201e681-a727-4fd2-adec-cbcb543b2232	8aec558c-7b7e-47dd-b84f-db6dabacbd12	g.chr22:23915257delC	ENST00000454863.1	+	0	517				AP000345.2_ENST00000458318.1_RNA																							ACACTGAGAACCCAGGAGAAG	0.502													5	1	---	---	---	---