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
DLG2	1740	broad.mit.edu	37	11	83641505	83641505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:83641505G>T	ENST00000398309.2	-	10	1517	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	DLG2_ENST00000543673.1_Missense_Mutation_p.S454R|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S103R|DLG2_ENST00000376104.2_Missense_Mutation_p.S454R|DLG2_ENST00000330014.6_Missense_Mutation_p.S288R|DLG2_ENST00000532653.1_Missense_Mutation_p.S349R|DLG2_ENST00000524982.1_Missense_Mutation_p.S349R|DLG2_ENST00000280241.8_Missense_Mutation_p.S388R|DLG2_ENST00000531015.1_Missense_Mutation_p.S316R|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.S388R	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	349						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCACAGTGCTGTAAACAG	0.483000													20	8					1.2644e-06	1.35366e-06	1	1	0
SGCB	6443	broad.mit.edu	37	4	52894901	52894901	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:52894901C>T	ENST00000381431.5	-	4	838	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	SGCB_ENST00000535450.1_Missense_Mutation_p.E136K	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	206	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATACCCTTTCAGTAGATGCC	0.343000													4	39					0	0	1	0	0
MTX3	345778	broad.mit.edu	37	5	79284343	79284343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:79284343C>T	ENST00000512560.1	-	4	382	c.263G>A	c.(262-264)aGg>aAg	p.R88K	MTX3_ENST00000509852.1_Missense_Mutation_p.R149K|MTX3_ENST00000512528.1_Missense_Mutation_p.R149K	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	149					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CAGGAGAATCCTATTCAGTGC	0.458000													10	2					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49752754	49752754	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:49752754G>A	ENST00000492622.2	+	14	1886	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	FNDC3A_ENST00000398316.3_Silent_p.V471V|FNDC3A_ENST00000541916.1_Silent_p.V527V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	527	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTACACAGTGAAAAATCTCA	0.343000													5	34					0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121997182	121997182	+	Missense_Mutation	SNP	G	G	A	rs137971940		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:121997182G>A	ENST00000263707.5	-	8	909	c.812C>T	c.(811-813)cCg>cTg	p.P271L		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	271					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTTGGGGACGGGGCGCTGTT	0.612000													21	24					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213947	102213947	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:102213947A>T	ENST00000520347.1	-	2	2979	c.23T>A	c.(22-24)aTt>aAt	p.I8N	ZNF706_ENST00000521272.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519882.1_Missense_Mutation_p.I8N|ZNF706_ENST00000519744.1_Missense_Mutation_p.I8N|ZNF706_ENST00000518336.1_Missense_Mutation_p.I8N|ZNF706_ENST00000520984.1_Missense_Mutation_p.I8N|ZNF706_ENST00000517844.1_Missense_Mutation_p.I8N|ZNF706_ENST00000311212.4_Missense_Mutation_p.I8N			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	8						intracellular	zinc ion binding			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGAGACTGAATTTTCTGCTG	0.393000													6	51					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101788189	101788189	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:101788189C>G	ENST00000375001.3	+	16	2407	c.1984C>G	c.(1984-1986)Cct>Gct	p.P662A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	662	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCCCAGGGCCCTGAGGGACA	0.577000													10	3					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313497	18313497	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18313497G>C	ENST00000222256.4	-	2	232	c.54C>G	c.(52-54)aaC>aaG	p.N18K	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	18					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TGTAGTCGAAGTTCTGATCCG	0.582000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	99					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7579358C>A	ENST00000420246.2	-	4	461	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000269305.4_Missense_Mutation_p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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)			38	44					1.56738e-10	1.74664e-10	1	1	0
ATXN3	4287	broad.mit.edu	37	14	92563179	92563179	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:92563179C>A	ENST00000545170.1	-	2	96	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E10*|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E10*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E10*|ATXN3_ENST00000340660.6_Intron	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	10	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AGTGAGCCTTCTTGCTAATAT	0.328000													16	43					7.07596e-05	7.40129e-05	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153907346	153907346	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:153907346C>T	ENST00000361217.4	-	18	3081	c.2663G>A	c.(2662-2664)cGc>cAc	p.R888H		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	888	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGCTGGCGGAACTGAGC	0.627000													20	117					0	0	1	0	0
GHRL	51738	broad.mit.edu	37	3	10331501	10331501	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:10331501A>T	ENST00000335542.8	-	4	1040	c.170T>A	c.(169-171)cTc>cAc	p.L57H	GHRL_ENST00000437422.2_Missense_Mutation_p.L45H|GHRLOS_ENST00000605105.1_RNA|GHRLOS_ENST00000439539.3_RNA|GHRL_ENST00000449554.2_Missense_Mutation_p.L56H|GHRL_ENST00000429122.1_Missense_Mutation_p.L57H|GHRL_ENST00000449238.2_Missense_Mutation_p.L44H|GHRL_ENST00000422159.1_Missense_Mutation_p.L57H|GHRLOS_ENST00000605014.1_RNA|GHRL_ENST00000439975.2_Intron|GHRL_ENST00000287656.7_Missense_Mutation_p.L56H|GHRL_ENST00000457360.1_Missense_Mutation_p.L57H|GHRL_ENST00000430179.1_Missense_Mutation_p.L56H|GHRL_ENST00000450603.1_Missense_Mutation_p.L57H|GHRLOS_ENST00000603771.1_RNA|GHRL_ENST00000446937.2_Intron			Q9UBU3	GHRL_HUMAN	ghrelin/obestatin prepropeptide	57					actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|G-protein coupled receptor protein signaling pathway|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TTCCGGGCGGAGCCAGCCTGC	0.587000													60	36					0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215299	46215299	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:46215299G>A	ENST00000317683.3	-	2	1588	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	485	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCAGGAAGCTGAAGATCTTGA	0.632000													6	23					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104753117	104753117	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:104753117G>A	ENST00000334877.4	+	26	5322	c.4788G>A	c.(4786-4788)ccG>ccA	p.P1596P	KMT2E_ENST00000257745.4_Silent_p.P1638P|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Silent_p.P1638P					lysine (K)-specific methyltransferase 2E																		CTCCAGGACCGCACCTTGTAC	0.547000													3	53					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320740	49320740	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:49320740A>G	ENST00000559471.1	-	5	1067	c.804T>C	c.(802-804)atT>atC	p.I268I	SECISBP2L_ENST00000261847.3_Silent_p.I268I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	268										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TATCACTGTCAATGTCGGCTT	0.512000													14	12					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18853806	18853806	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:18853806C>T	ENST00000338797.6	+	2	238	c.213C>T	c.(211-213)atC>atT	p.I71I	CRTC1_ENST00000321949.8_Silent_p.I71I|CRTC1_ENST00000594658.1_Silent_p.I30I|CRTC1_ENST00000601916.1_5'UTR	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	71					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TGAACCAGATCGGGAGTGGCA	0.667000													17	25					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681733	30681733	+	Missense_Mutation	SNP	G	G	A	rs137893469	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681733G>A	ENST00000376406.3	-	3	1011	c.364C>T	c.(364-366)Ctc>Ttc	p.L122F	MDC1_ENST00000376405.2_Missense_Mutation_p.L122F	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	122	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCAGCAAAGAGAATCAATTCC	0.552000								Other conserved DNA damage response genes					35	14					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741083	139741083	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:139741083C>G	ENST00000436881.1	+	1	2217	c.2217C>G	c.(2215-2217)atC>atG	p.I739M		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	739										endometrium(2)|large_intestine(1)|lung(6)	9						TCTCGCGCATCGCGCGTGTCG	0.706000													3	13					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85405916	85405916	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405916G>A	ENST00000258888.5	+	10	4953	c.4786G>A	c.(4786-4788)Gac>Aac	p.D1596N		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1596	Alpha-type protein kinase.				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)			GGGTCTGGCTGACTCTGGCTG	0.582000													13	33					0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710341	34710341	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:34710341G>T	ENST00000544216.3	+	7	904	c.827G>T	c.(826-828)cGg>cTg	p.R276L	LSM14A_ENST00000433627.5_Missense_Mutation_p.R276L|LSM14A_ENST00000540746.2_Missense_Mutation_p.R235L	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	276					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GGGGGTCATCGGGGTGGCAGG	0.438000													3	75					0.115264	0.115901	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68092140	68092140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:68092140G>T	ENST00000262210.5	+	26	3215	c.3184G>T	c.(3184-3186)Gaa>Taa	p.E1062*	CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.E717*|ARFGEF1_ENST00000520381.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1097						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTCATTATTGGAATCTGATAG	0.274000													15	33					4.14922e-12	4.69042e-12	1	1	0
RNF17	56163	broad.mit.edu	37	13	25451309	25451309	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:25451309C>G	ENST00000255324.5	+	34	4810	c.4758C>G	c.(4756-4758)ctC>ctG	p.L1586L	RNF17_ENST00000339524.3_Silent_p.L596L|RNF17_ENST00000381921.1_Silent_p.L1544L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1586					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAAACAACTCTATGCTGTGT	0.418000													7	11					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21526172	21526172	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:21526172G>A	ENST00000313654.9	+	70	9516	c.9275G>A	c.(9274-9276)gGa>gAa	p.G3092E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G3036E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1427E|LAMA3_ENST00000269217.6_Missense_Mutation_p.G1483E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3092	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCGGGAGGGAAGTTTGCCT	0.493000													7	44					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003589	50003589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:50003589C>A	ENST00000335238.4	-	1	482	c.449G>T	c.(448-450)gGa>gTa	p.G150V		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGAAGAAATCCTCCCACCCA	0.498000													62	100					5.52965e-18	6.32953e-18	1	1	0
CD68	968	broad.mit.edu	37	17	7483025	7483025	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7483025C>T	ENST00000250092.6	+	1	241	c.30C>T	c.(28-30)gcC>gcT	p.A10A	CD68_ENST00000380498.6_Silent_p.A10A	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	10						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						TCTCGGGGGCCCTGCTGGGGC	0.637000													3	11					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128407640	128407640	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:128407640C>T	ENST00000542996.2	+	7	1741	c.798C>T	c.(796-798)atC>atT	p.I266I	CALU_ENST00000249364.4_Silent_p.I258I|CALU_ENST00000479257.1_Silent_p.I266I|CALU_ENST00000538546.1_Silent_p.I107I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000449187.2_Silent_p.I258I|CALU_ENST00000535011.2_Intron	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	258	EF-hand 6.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AAGACTGGATCCTTCCCTCAG	0.502000													18	10					0	0	1	0	0
ANKRD10	55608	broad.mit.edu	37	13	111546470	111546470	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:111546470T>A	ENST00000375758.5	-	4	669	c.535A>T	c.(535-537)Att>Ttt	p.I179F	ANKRD10_ENST00000489973.2_5'UTR|ANKRD10_ENST00000310847.4_Missense_Mutation_p.I179F|ANKRD10_ENST00000267339.2_Intron			Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	0										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			AGACACTGAATTAAAACTGAG	0.368000													6	39					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848436	48848436	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:48848436G>C	ENST00000314191.2	-	13	1359	c.1303C>G	c.(1303-1305)Ctg>Gtg	p.L435V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L435V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	435					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGGTGCTCCAGAACTGGAGTA	0.433000								Non-homologous end-joining					7	11					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14312825	14312825	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:14312825A>G	ENST00000571589.1	+	8	835	c.663A>G	c.(661-663)ccA>ccG	p.P221P	MKL2_ENST00000341243.5_Silent_p.P210P|MKL2_ENST00000572567.1_Silent_p.P210P|MKL2_ENST00000573051.1_Silent_p.P170P|MKL2_ENST00000318282.5_Silent_p.P221P|MKL2_ENST00000574045.1_Silent_p.P221P	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	210					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGAATCGCCATCTCCTGTGA	0.458000													8	28					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr18:3188882C>T	ENST00000400569.3	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000356443.4_Missense_Mutation_p.R212K			P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517000													4	48					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:21971111G>A	ENST00000579755.1	-	2	582	c.290C>T	c.(289-291)gCa>gTa	p.A97V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			L -> R (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			31	7					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286670	11286670	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:11286670C>G	ENST00000539585.1	-	1	573	c.174G>C	c.(172-174)ttG>ttC	p.L58F	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						ACACCCAGAGCAAACCAACTC	0.408000													3	119					0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67044773	67044773	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:67044773G>A	ENST00000308595.5	+	2	434	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ADRBK1_ENST00000526285.1_Silent_p.E48E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	48	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGTACCTGGAGGACCGGGGCG	0.617000													4	162					0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931249	102931249	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:102931249C>G	ENST00000423833.2	-	3	1932	c.707G>C	c.(706-708)gGa>gCa	p.G236A	MORF4L2_ENST00000451301.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000360458.1_Missense_Mutation_p.G236A|MORF4L2_ENST00000441076.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000422154.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000433176.2_Missense_Mutation_p.G236A|MORF4L2_ENST00000372620.1_Missense_Mutation_p.G118A			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	236					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	p.G236V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CAACATTGCTCCAATTCTTAC	0.443000													4	33					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43026218	43026218	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43026218G>C	ENST00000356231.3	-	8	1308	c.1285C>G	c.(1285-1287)Caa>Gaa	p.Q429E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	429						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GAGACAGCTTGAGTAGAGGGA	0.468000													16	8					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051480	75051480	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051480C>T	ENST00000310715.3	-	19	2268	c.2148G>A	c.(2146-2148)ttG>ttA	p.L716L	TTC18_ENST00000355577.3_Silent_p.L185L|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Silent_p.L716L|TTC18_ENST00000394865.1_Silent_p.L716L	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	716							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CATAGTTCTCCAACAGGACAG	0.408000													4	21					0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065124	62065124	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:62065124G>T	ENST00000344425.5	-	8	1330	c.1156C>A	c.(1156-1158)Cat>Aat	p.H386N	KCNQ2_ENST00000370224.1_Intron|KCNQ2_ENST00000370221.1_Intron|KCNQ2_ENST00000359689.1_Intron|KCNQ2_ENST00000360480.3_Intron|KCNQ2_ENST00000344462.3_Intron|KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000370222.3_Intron|KCNQ2_ENST00000370226.1_Intron|KCNQ2_ENST00000357249.2_Intron|KCNQ2_ENST00000430658.1_Intron|KCNQ2_ENST00000359125.2_Intron|KCNQ2_ENST00000482957.1_5'UTR	NM_172109.1	NP_742107.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	0					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AATAAAAAATGAAACAGTTGC	0.433000													8	55					5.18039e-06	5.48158e-06	1	1	0
MUC17	140453	broad.mit.edu	37	7	100677236	100677236	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:100677236C>T	ENST00000306151.4	+	3	2603	c.2539C>T	c.(2539-2541)Cct>Tct	p.P847S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	847	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTACACCTGC	0.502000													108	197					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74384602	74384602	+	RNA	SNP	T	T	C	rs140327841	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:74384602T>C	ENST00000429810.2	-	0	849																											TGCCCATTACTTGAAGAACAG	0.458000													2	10					0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191900890	191900890	+	Splice_Site	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:191900890C>T	ENST00000392320.2	-	17	1884	c.1570_splice	c.e17+1	p.V524_splice	STAT4_ENST00000358470.4_Splice_Site_p.V524_splice	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	524					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAGCTCTCACCTGTAAGCTTC	0.423000													10	14					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914805	32914805	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:32914805A>G	ENST00000544455.1	+	11	6540	c.6313A>G	c.(6313-6315)Ata>Gta	p.I2105V	BRCA2_ENST00000380152.3_Missense_Mutation_p.I2105V	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2105					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATCAAAAATACTTCCTCG	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			13	15					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935812	34935812	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:34935812T>C	ENST00000304718.4	+	8	1299	c.983T>C	c.(982-984)tTc>tCc	p.F328S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	328					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAGATGCTTTTCTATCTTGGT	0.433000													26	95					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851485	63851485	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:63851485G>A	ENST00000279873.7	+	10	2673	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I	ARID5B_ENST00000309334.5_Missense_Mutation_p.V512I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	755					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GATTCAGCACGTCCAGAGTTT	0.512000													5	90					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129241116	129241116	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:129241116C>T	ENST00000305031.4	+	1	952	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	198						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGGCGCGTTTCATCCCGGGCC	0.721000													7	10					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785083	90785083	+	Missense_Mutation	SNP	G	G	C	rs35018599		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:90785083G>C	ENST00000558017.1	+	4	1363	c.943G>C	c.(943-945)Gcc>Ccc	p.A315P	GDPGP1_ENST00000329600.6_Missense_Mutation_p.A315P	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	315					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										AATTCTGTGGGCCCGGAAGTC	0.552000													27	32					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601966	43601966	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:43601966A>T	ENST00000355710.3	+	5	1242	c.1010A>T	c.(1009-1011)gAg>gTg	p.E337V	RET_ENST00000340058.5_Missense_Mutation_p.E337V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	337					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TGGCCCAACGAGACCTCGGTC	0.652000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				6	11					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7685323	7685323	+	Missense_Mutation	SNP	C	C	T	rs4134865		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:7685323C>T	ENST00000358368.4	-	16	2141	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T	XAB2_ENST00000534844.1_Missense_Mutation_p.A699T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	702			A -> T (in dbSNP:rs4134865).		transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCCAGAACGCGCCGGTCGTC	0.657000								Direct reversal of damage;Nucleotide excision repair (NER)					10	73					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715220	101715220	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715220C>G	ENST00000342239.3	-	4	2102	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E671Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	671					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTAAGGTCTCACAGGTAGGA	0.597000													9	32					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100971314	100971314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:100971314C>T	ENST00000375066.5	-	9	1877	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	TBC1D2_ENST00000375063.1_Missense_Mutation_p.E136K|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E596K|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E378K|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	596						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TCCACAGCCTCGAGGCCCAGC	0.647000													11	212					0	0	1	0	0
PSMB10	5699	broad.mit.edu	37	16	67969351	67969351	+	Nonstop_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:67969351A>G	ENST00000573493.1	-	2	90	c.91T>C	c.(91-93)Tag>Cag	p.*31Q	PSMB10_ENST00000358514.4_Missense_Mutation_p.L177P																							CCGGTCTTCTAGCACCGCCAG	0.647000													12	37					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85405871	85405871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85405871G>A	ENST00000258888.5	+	10	4908	c.4741G>A	c.(4741-4743)Gaa>Aaa	p.E1581K		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1581					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)			TTCAGTTGGAGAAGAGATTGA	0.572000													16	30					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50752701	50752701	+	Splice_Site	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr22:50752701C>G	ENST00000413817.2	-	13	1144	c.1072_splice	c.e13-1	p.G358_splice		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		AGGCAGGTCTCCTACGAGACA	0.637000													3	22					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673612	44673612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr20:44673612G>A	ENST00000454036.1	+	12	1547	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E468K|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	491					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGTTTGGCGAAGCTGTGAA	0.567000													23	94					0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945294	88945294	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:88945294C>T	ENST00000556564.1	-	13	2765	c.2481G>A	c.(2479-2481)aaG>aaA	p.K827K	PTPN21_ENST00000328736.3_Silent_p.K827K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	827						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCACGATGTTCTTCTTCCCAG	0.647000													35	51					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186481	213186481	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:213186481C>G	ENST00000366962.3	-	2	493	c.339G>C	c.(337-339)atG>atC	p.M113I	ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000535388.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	113										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CCTCAGCGTTCATGACGTAAC	0.408000													17	73					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44738977	44738977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:44738977C>T	ENST00000313040.7	+	6	599	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ZNF227_ENST00000589707.1_3'UTR|ZNF227_ENST00000391961.2_Nonsense_Mutation_p.Q81*|ZNF227_ENST00000586228.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.Q81*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAGGTGTCTTCAGGGGAAGAG	0.373000													21	46					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799093	209799093	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:209799093C>A	ENST00000391911.1	-	13	2265	c.1876G>T	c.(1876-1878)Gat>Tat	p.D626Y	LAMB3_ENST00000356082.4_Missense_Mutation_p.D626Y|LAMB3_ENST00000367030.3_Missense_Mutation_p.D626Y	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	626	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCTTTGCATCTAGGATCCGG	0.642000													5	109					0.184627	0.184627	1	1	0
PKD1	5310	broad.mit.edu	37	16	2164258	2164258	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:2164258G>C	ENST00000262304.4	-	11	2974	c.2766C>G	c.(2764-2766)ctC>ctG	p.L922L	PKD1_ENST00000423118.1_Silent_p.L922L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	922	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			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						CCCGCAGGCTGAGGTTGGCCC	0.672000													7	18					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101117299	101117299	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101117299T>A	ENST00000356713.4	+	2	1893	c.1604T>A	c.(1603-1605)gTg>gAg	p.V535E	CNNM1_ENST00000370534.4_Missense_Mutation_p.V170E|CNNM1_ENST00000370528.3_Missense_Mutation_p.V464E|CNNM1_ENST00000446890.1_Missense_Mutation_p.V464E	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	535	CBS 2.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GTCCAGCGGGTGAATAATGAG	0.433000													6	13					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:105001535G>A	ENST00000507740.1	+	14	2542	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383000										HNSCC(12;0.0054)			18	84					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78343325	78343325	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:78343325G>A	ENST00000582970.1	+	45	12322	c.12179G>A	c.(12178-12180)cGc>cAc	p.R4060H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2133H|RNF213_ENST00000508628.2_Missense_Mutation_p.R4109H|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGCATGCCCGCTTCCGGCAG	0.498000													4	102					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72951930	72951930	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:72951930G>A	ENST00000425042.2	-	13	1670	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_030630.2	NP_085133.1			HID1 domain containing																		CCTCCAGGAGGAAGAAGACCA	0.587000													27	34					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350644	89350644	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:89350644G>C	ENST00000301030.4	-	9	2766	c.2306C>G	c.(2305-2307)tCa>tGa	p.S769*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S769*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	769	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGTCTTTTGATTTCTTCTT	0.348000													6	30					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051479	75051479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:75051479C>T	ENST00000310715.3	-	19	2269	c.2149G>A	c.(2149-2151)Gag>Aag	p.E717K	TTC18_ENST00000355577.3_Missense_Mutation_p.E186K|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.E717K|TTC18_ENST00000394865.1_Missense_Mutation_p.E717K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	717							binding	p.E717K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCATAGTTCTCCAACAGGACA	0.408000													4	20					0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	RNA	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:136132863C>T	ENST00000453660.2	-	0	317							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552000													3	45					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82333859	82333859	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:82333859G>A	ENST00000376520.4	+	16	2487	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	TLE4_ENST00000376544.3_Silent_p.K452K|TLE4_ENST00000376534.4_Silent_p.K158K|TLE4_ENST00000265284.6_Silent_p.K496K|TLE4_ENST00000376552.2_Silent_p.K521K|TLE4_ENST00000376537.4_Silent_p.K553K			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGGCAATAAGAGTCCTGTCT	0.542000													9	55					0	0	1	0	0
DERL1	79139	broad.mit.edu	37	8	124042859	124042859	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:124042859G>A	ENST00000259512.4	-	2	551	c.251C>T	c.(250-252)aCg>aTg	p.T84M	DERL1_ENST00000419562.2_Intron|DERL1_ENST00000405944.3_Missense_Mutation_p.T84M|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.1|NM_024295.4	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	84					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCAAGTCGCGTAGAATACTG	0.373000													7	49					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121842	117121842	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:117121842G>T	ENST00000310357.3	-	4	1474	c.1453C>A	c.(1453-1455)Cac>Aac	p.H485N	GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.H310N	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	485					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACAGTCATGTGTCCATTGATC	0.383000													15	45					3.27435e-08	3.58995e-08	1	1	0
TP63	8626	broad.mit.edu	37	3	189612152	189612152	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:189612152G>T	ENST00000264731.3	+	14	1993	c.1904G>T	c.(1903-1905)gGt>gTt	p.G635V	TP63_ENST00000449992.1_Missense_Mutation_p.G456V|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Missense_Mutation_p.G541V|TP63_ENST00000440651.2_Missense_Mutation_p.G631V|TP63_ENST00000456148.1_Missense_Mutation_p.G537V|TP63_ENST00000382063.4_Missense_Mutation_p.G550V	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	635	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GAGACCCGGGGTGAGCGTGTT	0.577000										HNSCC(45;0.13)			15	94					1.5739e-10	1.74664e-10	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101639864	101639864	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101639864G>C	ENST00000342239.3	-	16	4415	c.4324C>G	c.(4324-4326)Ctc>Gtc	p.L1442V	DNMBP_ENST00000540316.1_Missense_Mutation_p.L354V|DNMBP_ENST00000543621.1_Missense_Mutation_p.L664V|DNMBP_ENST00000324109.4_Missense_Mutation_p.L1418V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1418	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GATGCACTGAGAGTTCCTTGG	0.537000													16	78					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93641137	93641137	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:93641137C>T	ENST00000375754.4	+	11	1631	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	SYK_ENST00000375746.1_Silent_p.L495L|SYK_ENST00000375747.1_Silent_p.L472L|SYK_ENST00000375751.4_Silent_p.L472L	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	495	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCACAGAGATCTGGCTGCAAG	0.433000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								16	64					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46925146	46925146	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:46925146C>T	ENST00000359759.4	+	34	4233	c.4212C>T	c.(4210-4212)ccC>ccT	p.P1404P	COL18A1_ENST00000400337.2_Silent_p.P989P|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000355480.5_Silent_p.P1169P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1404	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCCCGGCCCCCCAGGCCCCC	0.731000													3	6					0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81971422	81971422	+	Silent	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522000													23	21					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544406	10544406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:10544406G>C	ENST00000583535.1	-	19	2248	c.2161C>G	c.(2161-2163)Caa>Gaa	p.Q721E	MYH3_ENST00000226209.7_Missense_Mutation_p.Q721E	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	721	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACACACCTTTGTTTAAAATCG	0.453000													13	90					0	0	1	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013841	33013841	+	RNA	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr16:33013841C>A	ENST00000567619.1	-	0	499																											AAGCCTGGGGCCTCAGTGAAG	0.602000													6	27					0.0215528	0.0217922	1	1	0
DENND1A	57706	broad.mit.edu	37	9	126319866	126319866	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:126319866C>A	ENST00000373624.2	-	13	1177	c.976G>T	c.(976-978)Gct>Tct	p.A326S	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.A294S|DENND1A_ENST00000394215.2_Missense_Mutation_p.A296S|DENND1A_ENST00000373620.3_Missense_Mutation_p.A326S|DENND1A_ENST00000373618.1_Missense_Mutation_p.A294S|DENND1A_ENST00000542603.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	326	dDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						ATTTTCAGAGCGTTTCGGTAG	0.547000													11	20					4.68919e-08	5.11037e-08	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104928744	104928744	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:104928744T>C	ENST00000507740.1	+	6	1675	c.1439T>C	c.(1438-1440)cTt>cCt	p.L480P	RIMS2_ENST00000406091.3_Missense_Mutation_p.L672P|RIMS2_ENST00000262231.10_Missense_Mutation_p.L527P|RIMS2_ENST00000436393.2_Missense_Mutation_p.L450P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	750					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAGTAGAACTTGTAGTTTCA	0.348000										HNSCC(12;0.0054)			40	19					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121339445	121339445	+	Splice_Site	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:121339445A>T	ENST00000369092.4	-	7	1387		c.e7+1		TIAL1_ENST00000369093.2_Splice_Site|TIAL1_ENST00000436547.2_Splice_Site			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GGAAGAACGTACCAGTTTGTT	0.313000													4	6					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163510334	163510334	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:163510334C>G	ENST00000337019.3	+	5	731	c.507C>G	c.(505-507)ctC>ctG	p.L169L	PACRG_ENST00000366889.2_Silent_p.L169L|PACRG_ENST00000366888.2_Silent_p.L169L	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	169										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GTGTCACTCTCAAGGTCCTCC	0.448000													12	26					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89834114	89834114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:89834114G>T	ENST00000370456.4	+	2	97	c.4G>T	c.(4-6)Gaa>Taa	p.E2*	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	2							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		AGTTGCCATGGAATCTGGACC	0.443000													15	29					3.45872e-05	3.63865e-05	1	1	0
NOX3	50508	broad.mit.edu	37	6	155743937	155743937	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743937G>C	ENST00000159060.2	-	10	1301	c.1199C>G	c.(1198-1200)cCa>cGa	p.P400R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CACACACACTGGGTAGTGAAA	0.527000													30	44					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25302066	25302066	+	RNA	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:25302066G>C	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA																							AAATGAGTGAGAACTCATACC	0.507000													13	45					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100706146	100706146	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr14:100706146G>A	ENST00000262238.4	+	1	825	c.565G>A	c.(565-567)Ggg>Agg	p.G189R		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	189					cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cctcagcggcggggccggcgc	0.721000													5	12					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73521402	73521402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:73521402G>A	ENST00000418310.1	+	8	1136	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	LIMK1_ENST00000538333.3_Missense_Mutation_p.R281H|LIMK1_ENST00000336180.2_Missense_Mutation_p.R315H			P53667	LIMK1_HUMAN	LIM domain kinase 1	315	Protein kinase.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCCTCCCAGCGCAAGGACCTG	0.706000													11	15					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714995	92714995	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:92714995G>A	ENST00000257068.2	+	2	612	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	202					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AGTACACGGCGGCAGTGGTGG	0.607000													21	7					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115598539	115598539	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:115598539A>G	ENST00000374232.3	+	5	828	c.664A>G	c.(664-666)Atg>Gtg	p.M222V		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	222					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCTGACCAGAATGGGCGAGTC	0.507000													100	20					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911618	46911618	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:46911618C>T	ENST00000378623.1	-	15	2211	c.1969G>A	c.(1969-1971)Gac>Aac	p.D657N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	657					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGCCAGTCTGTCCAGTAC	0.517000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	89					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134044567	134044567	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:134044567C>G	ENST00000398844.2	+	18	3004	c.2716C>G	c.(2716-2718)Ctc>Gtc	p.L906V		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	906					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGTTGGCTCTCCTTAAACA	0.468000													16	2					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523433	2523433	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:2523433C>A	ENST00000288709.6	-	22	2314	c.2074G>T	c.(2074-2076)Gac>Tac	p.D692Y	MMEL1_ENST00000378412.3_Missense_Mutation_p.D701Y|MMEL1_ENST00000502556.1_Missense_Mutation_p.D544Y	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	701					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		AGCTGCTGGTCCTTGCCACCC	0.617000													31	11					4.4194e-11	4.96501e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179484357	179484357	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:179484357C>G	ENST00000589042.1	-	250	46911	c.46687G>C	c.(46687-46689)Gaa>Caa	p.E15563Q	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6498Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6690Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12995Q|TTN_ENST00000359218.5_Missense_Mutation_p.E6623Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E13922Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13922	Fibronectin type-III 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGCCAGTTCAAGCTTAGCT	0.383000													12	51					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113439477	113439477	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:113439477G>T	ENST00000487903.1	+	2	156	c.68G>T	c.(67-69)aGc>aTc	p.S23I	ATP11A_ENST00000283558.8_Missense_Mutation_p.S23I|ATP11A_ENST00000375645.3_Missense_Mutation_p.S23I|ATP11A_ENST00000375630.2_Missense_Mutation_p.S23I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	23					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGGGTGGACAGCAGGACCATC	0.572000											OREG0003855	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	37					4.44401e-20	5.11905e-20	1	1	0
MICALCL	84953	broad.mit.edu	37	11	12379876	12379876	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:12379876G>A	ENST00000256186.2	+	9	2229	c.1938G>A	c.(1936-1938)gaG>gaA	p.E646E		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	646					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TAAACGAAGAGCAAGAAGTAT	0.473000													34	72					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54228471	54228471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:54228471G>T	ENST00000354646.2	-	23	5464	c.5026C>A	c.(5026-5028)Caa>Aaa	p.Q1676K	WNK3_ENST00000375169.3_Missense_Mutation_p.Q1619K|WNK3_ENST00000375159.2_Missense_Mutation_p.Q1676K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1619					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGACTTTGTTTAAGTTGG	0.338000													6	13					5.18039e-06	5.48158e-06	1	1	0
CHD4	1108	broad.mit.edu	37	12	6691342	6691342	+	Silent	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:6691342G>C	ENST00000309577.6	-	29	4723	c.4560C>G	c.(4558-4560)gtC>gtG	p.V1520V	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Silent_p.V1517V|CHD4_ENST00000357008.2_Silent_p.V1492V|CHD4_ENST00000544040.1_Silent_p.V1485V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1492					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTAGTAAGGACATGCTGGC	0.542000													8	55					0	0	1	0	0
ZNF510	22869	broad.mit.edu	37	9	99521412	99521412	+	Missense_Mutation	SNP	G	G	A	rs141866339	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:99521412G>A	ENST00000375231.1	-	6	2350	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	ZNF510_ENST00000223428.4_Missense_Mutation_p.T567M			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTCCCGTGTGAGTTTT	0.418000													33	42					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065675	55065675	+	RNA	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:55065675T>A	ENST00000526016.1	-	0	33					NR_038174.2																						GGTGACTGGGTCTAGGAAGTA	0.483000													9	39					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242078139	242078139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:242078139C>T	ENST00000403638.3	-	5	762	c.671G>A	c.(670-672)cGc>cAc	p.R224H	PASK_ENST00000405260.1_Missense_Mutation_p.R224H|PASK_ENST00000544142.1_Missense_Mutation_p.R38H|PASK_ENST00000358649.4_Missense_Mutation_p.R224H|PASK_ENST00000539818.1_Missense_Mutation_p.R8H|PASK_ENST00000234040.4_Missense_Mutation_p.R224H	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	224					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCATAGGCGGCGCTCCTGCCG	0.572000													27	17					0	0	1	0	0
TERC	7012	broad.mit.edu	37	3	169482828	169482828	+	RNA	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:169482828C>G	ENST00000602385.1	-	0	20					NR_001566.1																						CCACCCCTCCCAGGCCCACCC	0.642000									Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				4	22					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249210815	249210815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:249210815G>A	ENST00000539153.1	+	4	278	c.23G>A	c.(22-24)gGg>gAg	p.G8E	PGBD2_ENST00000329291.5_Missense_Mutation_p.G11E|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	11										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCATTGCTGGGAGAGGTATC	0.463000													12	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652000		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)			22	40					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								5	80					0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685394	46685394	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:46685394T>C	ENST00000239165.7	-	2	562	c.464A>G	c.(463-465)gAa>gGa	p.E155G	HOXB7_ENST00000567101.1_5'UTR	NM_004502.3	NP_004493.3	P09629	HXB7_HUMAN	homeobox B7	155						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GTAGTGAAATTCTTTCTCCAG	0.547000													42	54					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74327069	74327069	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:74327069C>A	ENST00000377044.4	-	16	3238	c.2699G>T	c.(2698-2700)gGc>gTc	p.G900V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G837V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	900						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGAGGAAGCCAATTGCACT	0.428000													54	9					7.77372e-23	9.06934e-23	1	1	0
ASPA	443	broad.mit.edu	37	17	3392579	3392579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:3392579G>T	ENST00000263080.2	+	4	735	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.D193Y	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	193					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGATATCTTGGATCAAATGAG	0.328000													11	44					0.010729	0.0109701	1	1	0
SPG11	80208	broad.mit.edu	37	15	44887540	44887540	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:44887540C>T	ENST00000261866.7	-	26	4568	c.4552G>A	c.(4552-4554)Gag>Aag	p.E1518K	SPG11_ENST00000558319.1_Missense_Mutation_p.E1518K|SPG11_ENST00000427534.2_Missense_Mutation_p.E1518K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1518K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1518					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GAAAGATCCTCAAGGTTCCAG	0.418000													28	25					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126062854	126062854	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:126062854G>A	ENST00000318410.7	-	18	2500	c.2151C>T	c.(2149-2151)cgC>cgT	p.R717R	KIAA0196_ENST00000517845.1_Silent_p.R569R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	717					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAAGGCAACGCGCTTCACAA	0.483000													10	58					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762520	81762520	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81762520G>C	ENST00000550584.2	-	12	1761	c.1466C>G	c.(1465-1467)gCt>gGt	p.A489G	PPFIA2_ENST00000552948.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A415G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A56G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A471G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A336G|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A390G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A471G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A489G|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	415										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTAGAGCAGCCATTCTTTC	0.353000													12	70					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78562566	78562566	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:78562566T>C	ENST00000397909.2	+	24	5074	c.4901T>C	c.(4900-4902)aTt>aCt	p.I1634T	NAV3_ENST00000536525.2_Missense_Mutation_p.I1634T|NAV3_ENST00000228327.6_Missense_Mutation_p.I1634T|NAV3_ENST00000266692.7_Missense_Mutation_p.I1457T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1634						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGAAACCATTGAAATGCTG	0.413000										HNSCC(70;0.22)			7	41					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													5	20					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56721836	56721836	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:56721836T>A	ENST00000425394.2	-	5	970	c.594A>T	c.(592-594)ggA>ggT	p.G198G	PAN2_ENST00000440411.3_Silent_p.G198G|PAN2_ENST00000257931.5_Silent_p.G198G|PAN2_ENST00000548043.1_Silent_p.G198G	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	198					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGATGGTGACTCCAGGCGTCT	0.517000													12	19					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49210467	49210467	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:49210467G>A	ENST00000332780.2	+	2	474	c.265G>A	c.(265-267)Gag>Aag	p.E89K	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	89						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGTGTGGATGAGGTCCAGAG	0.662000													13	2					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715433	101715433	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:101715433C>G	ENST00000342239.3	-	4	1889	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.E600Q			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	600					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCGGCAGCTCCTGCTCGGTG	0.502000													9	36					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122387	31122387	+	Silent	SNP	T	T	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:31122387T>A	ENST00000396268.3	-	4	875	c.687A>T	c.(685-687)cgA>cgT	p.R229R	CCHCR1_ENST00000396263.2_Silent_p.R140R|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Silent_p.R140R|CCHCR1_ENST00000451521.2_Silent_p.R193R	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	140					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAGCCTCAGCTCGGCCGGCCT	0.662000													179	60					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70351035	70351035	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr4:70351035C>G	ENST00000305107.6	-	5	1247	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	UGT2B4_ENST00000381096.3_Missense_Mutation_p.D265H|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	401					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GCAATGTTATCAGGTTGATCT	0.443000													30	54					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326988	85326988	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:85326988C>T	ENST00000299927.3	+	1	1104	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	ZNF592_ENST00000560079.2_Missense_Mutation_p.S361L			Q92610	ZN592_HUMAN	zinc finger protein 592	361					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAAAGGCTCACCGTCTGTG	0.527000													18	40					0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45479530	45479530	+	Silent	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:45479530G>T	ENST00000334940.6	+	5	503	c.369G>T	c.(367-369)gtG>gtT	p.V123V	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000340258.4_Silent_p.V114V|RASSF4_ENST00000374417.2_Intron			Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	114					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTCAGCCAGTGCACAAGGCTG	0.622000													4	5					0.0215528	0.0217922	1	1	0
ZNF43	7594	broad.mit.edu	37	19	21991574	21991574	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr19:21991574C>G	ENST00000594012.1	-	7	1761	c.1247G>C	c.(1246-1248)gGa>gCa	p.G416A	ZNF43_ENST00000354959.4_Missense_Mutation_p.G422A|ZNF43_ENST00000595461.1_Missense_Mutation_p.G416A|ZNF43_ENST00000598381.1_Missense_Mutation_p.G416A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GGGTTTCTCTCCAGTATGAGT	0.373000													7	44					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531703	84531703	+	RNA	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:84531703C>G	ENST00000527857.1	+	0	1725					NR_026851.1																						TACCCAACCTCTACCCTCGCC	0.507000													4	22					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303381	41303381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:41303381G>A	ENST00000347132.5	+	13	1872	c.1790G>A	c.(1789-1791)cGg>cAg	p.R597Q	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.R543Q	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	597	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAAGGCCCGGGAGAAGGGC	0.642000													8	9					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117773475	117773475	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrX:117773475C>T	ENST00000276204.6	+	38	4153	c.4079C>T	c.(4078-4080)tCa>tTa	p.S1360L	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1360L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1360					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CGAAACAGATCAGGAGTAATG	0.428000													13	15					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9774114	9774114	+	Silent	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:9774114C>G	ENST00000262441.5	+	10	1620	c.1107C>G	c.(1105-1107)ctC>ctG	p.L369L	GLP2R_ENST00000574745.1_Silent_p.L189L	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	369					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTCTAAGCTCAAAGCTCATC	0.398000													39	74					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284107	43284107	+	RNA	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:43284107G>C	ENST00000511537.1	-	0	828					NR_033868.1																						AGTGGAGAAAGAGGAAGATTC	0.493000													2	6					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129794994	129794994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr11:129794994C>A	ENST00000358825.5	-	13	1904	c.1673G>T	c.(1672-1674)tGc>tTc	p.C558F	PRDM10_ENST00000528746.1_Missense_Mutation_p.C528F|PRDM10_ENST00000423662.2_Missense_Mutation_p.C472F|PRDM10_ENST00000304538.6_Missense_Mutation_p.C468F|PRDM10_ENST00000360871.3_Missense_Mutation_p.C554F|PRDM10_ENST00000526082.1_Missense_Mutation_p.C472F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGTCAGTGGGCAGTTCCCCTC	0.527000													40	25					3.09479e-21	3.58759e-21	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802803	185802803	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr2:185802803G>A	ENST00000302277.6	+	4	3274	c.2680G>A	c.(2680-2682)Gaa>Aaa	p.E894K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	894						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACCAATGGTGAAACTGAGCA	0.403000													10	51					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117668121	117668121	+	Silent	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:117668121T>C	ENST00000521861.1	-	5	704	c.681A>G	c.(679-681)aaA>aaG	p.K227K	EIF3H_ENST00000276682.4_Silent_p.K241K	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	227					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GCAATTCATGTTTATCTGCAA	0.378000													29	78					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939313	43939313	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:43939313G>A	ENST00000396879.1	-	5	435	c.323C>T	c.(322-324)cCt>cTt	p.P108L	CATSPER2_ENST00000321596.5_Missense_Mutation_p.P108L|CATSPER2_ENST00000355438.2_Missense_Mutation_p.P108L|CATSPER2_ENST00000381761.1_Missense_Mutation_p.P114L|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.P108L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	108					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TTTGAAGAGAGGACCTGTTGT	0.368000													29	25					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46222872	46222872	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:46222872G>C	ENST00000336378.4	+	2	129	c.11G>C	c.(10-12)cGg>cCg	p.R4P	FAM21C_ENST00000537517.1_Missense_Mutation_p.R4P|FAM21C_ENST00000374362.2_Missense_Mutation_p.R4P|FAM21C_ENST00000540872.1_Missense_Mutation_p.R4P|FAM21C_ENST00000359860.4_Missense_Mutation_p.R3P	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	4										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGATGAACCGGACGACCCCC	0.721000													3	13					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35705828	35705828	+	Silent	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:35705828C>A	ENST00000440995.2	+	18	2568	c.2568C>A	c.(2566-2568)atC>atA	p.I856I	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.I861I|SPEF2_ENST00000509059.1_Silent_p.I856I			Q9C093	SPEF2_HUMAN	sperm flagellar 2	861					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATAAAAATCAATGCTGAAA	0.274000													3	23					0.004672	0.00480398	1	1	0
HLTF	6596	broad.mit.edu	37	3	148791054	148791054	+	Silent	SNP	A	A	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:148791054A>G	ENST00000310053.5	-	5	778	c.585T>C	c.(583-585)taT>taC	p.Y195Y	HLTF_ENST00000494055.1_Silent_p.Y195Y|HLTF_ENST00000465259.1_Silent_p.Y195Y|HLTF_ENST00000392912.2_Silent_p.Y195Y	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	195					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGGCATACTATAGCTTGGTC	0.353000													36	14					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116150610	116150610	+	Silent	SNP	C	C	T	rs35581515		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:116150610C>T	ENST00000409155.3	-	12	1159	c.963G>A	c.(961-963)ccG>ccA	p.P321P	ALAD_ENST00000277315.5_Silent_p.P304P	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	321					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCAGCAGCTGCGGTGTGTAGT	0.532000													4	115					0	0	1	0	0
PCCB	5096	broad.mit.edu	37	3	135974807	135974807	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:135974807A>T	ENST00000471595.1	+	2	311	c.293A>T	c.(292-294)gAt>gTt	p.D98V	PCCB_ENST00000468777.1_Missense_Mutation_p.D98V|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000466072.1_Missense_Mutation_p.D98V|PCCB_ENST00000478469.1_Missense_Mutation_p.D98V|PCCB_ENST00000462637.1_Missense_Mutation_p.D98V|PCCB_ENST00000469217.1_Missense_Mutation_p.D98V|PCCB_ENST00000490504.1_Missense_Mutation_p.D98V|PCCB_ENST00000251654.4_Missense_Mutation_p.D98V|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000483687.1_Missense_Mutation_p.D98V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	98	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATGGCTGCTGATAAGAATAAG	0.433000													11	55					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	14118	14118	+	Silent	SNP	A	A	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chrM:14118A>C	ENST00000361567.2	+	1	1782	c.1782A>C	c.(1780-1782)ccA>ccC	p.P594P				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	594					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	TTCTTCTTCCCACTCATCCTA	0.388000													2	0					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38880809	38880809	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:38880809C>G	ENST00000487273.2	+	9	957	c.879C>G	c.(877-879)atC>atG	p.I293M		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	293	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTTTCTTATCACACGTCGGA	0.383000													7	33					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59852094	59852094	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:59852094C>A	ENST00000361421.1	-	3	398	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	60						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGGCTTGGACCAGGGTAGGAC	0.423000													13	26					7.93312e-07	8.54336e-07	1	1	0
COL6A1	1291	broad.mit.edu	37	21	47423706	47423706	+	Missense_Mutation	SNP	G	G	C	rs149534094	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:47423706G>C	ENST00000361866.3	+	35	2980	c.2866G>C	c.(2866-2868)Gag>Cag	p.E956Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	956	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CGCTGCCATCGAGAAGGCCGT	0.672000													8	73					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10690033	10690033	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:10690033G>C	ENST00000356607.4	+	9	1203	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E311Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	375					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAACGAGAGTGAGCGGGACTA	0.706000													5	19					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338572	122338572	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:122338572C>A	ENST00000340112.2	-	1	638	c.401G>T	c.(400-402)gGt>gTt	p.G134V	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	134	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.G134A(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTGCCAGTACCTGGAACGTT	0.428000													19	60					6.94344e-10	7.65883e-10	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81503433	81503433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:81503433C>T	ENST00000548058.1	+	2	1316	c.406C>T	c.(406-408)Cct>Tct	p.P136S	ACSS3_ENST00000261206.3_Missense_Mutation_p.P135S|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	136						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTATGACAGTCCTGTTACAAA	0.318000													7	24					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33331187	33331187	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:33331187C>T	ENST00000270112.2	+	5	1139	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	260	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACCGGGACGCTGCCTTTC	0.542000													20	37					0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52550825	52550825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:52550825G>C	ENST00000211314.4	+	5	431	c.278G>C	c.(277-279)aGa>aCa	p.R93T		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	93						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					ATGATCCTGAGACTTGTCTTG	0.408000													43	15					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31848696	31848696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:31848696T>C	ENST00000396184.3	-	17	2044	c.1840A>G	c.(1840-1842)Aca>Gca	p.T614A	PDE1C_ENST00000396193.1_Missense_Mutation_p.T674A|PDE1C_ENST00000396182.2_Missense_Mutation_p.T614A|PDE1C_ENST00000321453.7_Missense_Mutation_p.T614A|PDE1C_ENST00000396191.1_Missense_Mutation_p.T614A|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	614					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTCTTGTCTGTCTTATTTTTA	0.328000													9	18					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681830	30681830	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:30681830G>A	ENST00000376406.3	-	3	914	c.267C>T	c.(265-267)ctC>ctT	p.L89L	MDC1_ENST00000376405.2_Silent_p.L89L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	89	FHA.|Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CACAGTCTCGGAGGATAGGTG	0.517000								Other conserved DNA damage response genes					22	6					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217323	98217323	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr3:98217323G>A	ENST00000427338.1	+	1	876	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E267Q(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTGCTTGAAGAAGGAGGTAA	0.328000													32	4					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39009051	39009051	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:39009051T>C	ENST00000379907.4	+	6	636	c.509T>C	c.(508-510)aTt>aCt	p.I170T	ADAM32_ENST00000437682.2_Missense_Mutation_p.I177T|ADAM32_ENST00000519315.1_Missense_Mutation_p.I170T	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	170					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GATGACAACATTTTTATAAGT	0.254000													9	15					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155743938	155743938	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:155743938G>T	ENST00000159060.2	-	10	1300	c.1198C>A	c.(1198-1200)Cca>Aca	p.P400T		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	400							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACACACACTGGGTAGTGAAAT	0.527000													30	44					2.61193e-14	2.97107e-14	1	1	0
RERG	85004	broad.mit.edu	37	12	15262053	15262053	+	Silent	SNP	G	G	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:15262053G>A	ENST00000256953.2	-	5	927	c.591C>T	c.(589-591)atC>atT	p.I197I	RERG_ENST00000536465.1_Silent_p.I197I|RERG_ENST00000546331.1_Silent_p.I178I|RERG_ENST00000538313.1_Silent_p.I197I	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	197					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	p.I197I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CCTAACTACTGATTTTGGTGA	0.493000													16	220					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													5	6	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)del	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665													8	9	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950724	79950725	+	In_Frame_Ins	INS	-	-	CCGCAGCGC	rs70991168		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr5:79950724_79950725insCCGCAGCGC	ENST00000265081.6	+	1	258_259	c.178_179insCCGCAGCGC	c.(178-180)cgc>CCGCAGCGCcgc	p.59_60insPQR	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	59	Poly-Ala.		Missing.		maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ggccgcagcggccgcagcgCCC	0.708								Mismatch excision repair (MMR)					5	1	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr6:170871013_170871014insCAG	ENST00000392092.2	+	3	468_469	c.189_190insCAG	c.(187-192)caagca>caCAGagca	p.63_63Q>HR	TBP_ENST00000230354.6_In_Frame_Ins_p.63_63Q>HR|TBP_ENST00000540980.1_In_Frame_Ins_p.43_43Q>HR	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	63	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													26	26	---	---	---	---					
TNS3	64759	broad.mit.edu	37	7	47384376	47384388	+	Frame_Shift_Del	DEL	GCTGGGCTGCTCA	GCTGGGCTGCTCA	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr7:47384376_47384388delGCTGGGCTGCTCA	ENST00000398879.1	-	20	2981_2993	c.2615_2627delTGAGCAGCCCAGC	c.(2614-2628)ccfs	p.LSSPA872fs	TNS3_ENST00000311160.9_Frame_Shift_Del_p.LSSPA872fs|TNS3_ENST00000355730.3_Frame_Shift_Del_p.LSSPA632fs			Q68CZ2	TENS3_HUMAN	tensin 3	872						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GTGCTGACTGGCTGGGCTGCTCAGCGGGGGCTC	0.610													9	75	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggccag>ggAGCGGCccag	p.350_351GQ>GAAQ	SGK223_ENST00000330777.4_In_Frame_Ins_p.350_351GQ>GAAQ			Q86YV5	SG223_HUMAN		350							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653													9	7	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													10	30	---	---	---	---					
SMC5	23137	broad.mit.edu	37	9	72933828	72933829	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr9:72933828_72933829insA	ENST00000361138.5	+	15	2157_2158	c.2099_2100insA	c.(2098-2100)aaafs	p.K700fs		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	700					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						CTTCTTGAGAGAAAAACCAAGA	0.406													8	10	---	---	---	---					
ZNF365	22891	broad.mit.edu	37	10	64425946	64425946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:64425946delC	ENST00000410046.3	+	7	1558	c.1278delC	c.(1276-1278)ctfs	p.L426fs	ZNF365_ENST00000395251.1_Frame_Shift_Del_p.L180fs|ZNF365_ENST00000395249.1_Frame_Shift_Del_p.L32fs	NM_199451.2	NP_955523.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	180										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGACAACTCCAAAATTGTG	0.413													7	22	---	---	---	---					
SMC3	9126	broad.mit.edu	37	10	112343699	112343701	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr10:112343699_112343701delAAG	ENST00000361804.4	+	12	1196_1198	c.1070_1072delAAG	c.(1069-1074)aaa>a	p.KE357del		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	357					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTGAAAGAGAAAGAAGAACGAGG	0.360													8	25	---	---	---	---					
LINC00987	100499405	broad.mit.edu	37	12	9392739	9392740	+	RNA	INS	-	-	TCTTCCTCCTCC	rs71045240		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:9392739_9392740insTCTTCCTCCTCC	ENST00000427111.3	+	0	141_142					NR_036466.1																						caccatcaccttcttcctcccc	0.545													4	6	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													7	32	---	---	---	---					
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)del	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719													8	41	---	---	---	---					
PDCD6IPP2	646278	broad.mit.edu	37	15	29037110	29037110	+	RNA	DEL	G	G	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:29037110delG	ENST00000562423.1	+	0	229																											GGGTGCTCTTGCAACTGACGC	0.383													6	13	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													8	1	---	---	---	---					
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083	byFrequency	TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)del	p.DPEALKGFHPDPKALKGFHP318del	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681													16	72	---	---	---	---					
NRIP1	8204	broad.mit.edu	37	21	16338750	16338750	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr21:16338750delA	ENST00000400202.1	-	3	2476	c.1764delT	c.(1762-1764)tcfs	p.S588fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.S588fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.S588fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	588	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTAGCTTTTCAGACTGAGTAC	0.438													101	76	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-CV-5440-01A-01D-1512-08	TCGA-CV-5440-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f5ba5a9-8089-4fe7-92e3-6c31c5fb32d4	91e50225-73be-4fa0-9abb-61160aaf7490	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								4	9	---	---	---	---					
