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
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353000													73	209					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:32480416C>T	ENST00000548411.1	+	5	1208	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000281474.5_Missense_Mutation_p.L343F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527000													37	93					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43907942C>G	ENST00000562955.1	+	56	7706	c.7706C>G	c.(7705-7707)gCc>gGc	p.A2569G	SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2626						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGCTGCCAAAGCCATG	0.602000													12	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179597359T>C	ENST00000589042.1	-	56	16653	c.16429A>G	c.(16429-16431)Act>Gct	p.T5477A	TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5160	Ig-like 35.						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)			GTGAGAGGAGTAGATCCTTGG	0.468000													23	67					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:37491963T>C	ENST00000381792.2	-	5	712	c.572A>G	c.(571-573)gAg>gGg	p.E191G	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647000													36	81					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512000													4	80					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149225491	149225491	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:149225491A>C	ENST00000394320.3	+	11	3027	c.2985A>C	c.(2983-2985)aaA>aaC	p.K995N	PPARGC1B_ENST00000309241.5_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron			Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	0					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCCCTGAAACCCAGCCACA	0.567000													8	42					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562000													21	23					1.87028e-06	1.97483e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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)			18	38					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E			P78411	IRX5_HUMAN	iroquois homeobox 5	419					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637000													20	79					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507000													84	150					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433000													43	110					6.4771e-29	7.38998e-29	1	1	0
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:65304218G>A	ENST00000524944.1	+	13	1846	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607000													49	125					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			104	29					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488000													22	70					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:179414261C>G	ENST00000367618.3	+	16	2107	c.1720C>G	c.(1720-1722)Cga>Gga	p.R574G	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	574										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCCATCAGAGCGACAGTACAT	0.338000													35	67					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712923	56712923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56712923T>C	ENST00000425394.2	-	24	3701	c.3325A>G	c.(3325-3327)Atg>Gtg	p.M1109V	PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000549090.1_Intron	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1109	Exonuclease.				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						TTTCGGGGCATATGGAACAGG	0.498000													24	55					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1894871G>C	ENST00000412554.2	-	10	1066	c.872C>G	c.(871-873)tCc>tGc	p.S291C	MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		ACAATTTATGGATTCTTTGAA	0.308000													18	12					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577000													20	53					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423000													29	105					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473000													33	70					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:15601453G>T	ENST00000342526.3	-	1	187	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATCCTGCTGGGCTTCTGGGT	0.443000													35	150					2.68265e-12	2.98072e-12	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453000													33	86					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	62					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348000													22	149					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473000													42	153					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:66204885C>A	ENST00000503581.1	-	4	956	c.419G>T	c.(418-420)tGg>tTg	p.W140L	EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	140					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACACTCAGCCACTTAGAATT	0.423000													39	79					6.97489e-18	7.80086e-18	1	1	0
JPH4	84502	broad.mit.edu	37	14	24045205	24045205	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:24045205C>G	ENST00000397118.3	-	4	1742	c.840G>C	c.(838-840)gaG>gaC	p.E280D	JPH4_ENST00000356300.4_Missense_Mutation_p.E280D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	280					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCGCGTACACCTCTGTGGCCG	0.766000													3	8					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632000													18	266					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413000													35	164					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005										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)			CTGTCAGGCTCAGGTCTGAGA	0.642000													13	14					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612000									Ichthyosis				201	385					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333000								DNA polymerases (catalytic subunits)					64	200					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403000													32	42					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:111912597G>A	ENST00000368761.5	-	2	1171	c.693C>T	c.(691-693)ctC>ctT	p.L231L	TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572000													62	99					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562000													58	128					7.10663e-31	8.21855e-31	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592000													29	51					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	WBP11_ENST00000537574.1_Missense_Mutation_p.G285R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423000													128	262					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398000													31	83					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	377	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647000													47	97					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49428450C>G	ENST00000301067.7	-	36	10355		c.e36-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACTTGCTGTCTGGAGTCCAC	0.547000													7	27					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18629869	18629869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:18629869G>A	ENST00000377329.4	+	1	204	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron	NM_201590.2	NP_963884.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478000													48	120					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587000													28	44					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38181550	38181550	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:38181550G>A	ENST00000330210.7	-	14	1939	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR			Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCTCAGACGCAGATTCTGG	0.557000													18	43					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582000													17	94					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438000													3	18					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:122645415G>A	ENST00000195173.4	-	9	1263	c.960C>T	c.(958-960)cgC>cgT	p.R320R	SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617000													19	58					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:66739354T>C	ENST00000488550.1	+	8	1115	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R			O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693).				sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438000													16	14					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145223234	145223234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:145223234A>G	ENST00000528919.1	+	3	180	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R|MROH1_ENST00000423230.2_Missense_Mutation_p.K20R	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		ATCACCGATAAGGACCCCCTG	0.667000													28	31					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.G51G|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TATCTTCAGAGCCACTTTCTG	0.378000													101	225					0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153601078	153601078	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:153601078G>A	ENST00000304385.3	-	1	239	c.8C>T	c.(7-9)gCt>gTt	p.A3V	TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	3						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TGCGCGGGGAGCCTGCATGTC	0.642000													5	14					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:86328538T>C	ENST00000355238.6	-	10	1484	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000369622.3_Silent_p.Q426Q	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308000													7	19					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587000													70	142					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323000													58	173					0	0	1	0	0
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468000													63	128					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:97174295G>A	ENST00000371247.2	-	9	955	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	256					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637000													24	58					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464798	76464798	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:76464798G>A	ENST00000389840.5	-	55	8761	c.8637C>T	c.(8635-8637)atC>atT	p.I2879I	DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGGAGATGATGTTCTCCA	0.537000													28	61					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:110294291G>A	ENST00000369805.3	-	16	1780	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	EPS8L3_ENST00000361852.4_Silent_p.G486G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.G516G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622000													33	44					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				69	66					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:76754297C>T	ENST00000536229.3	+	1	2616	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637000													17	28					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483000													91	161					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-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)			CTGGCTACCTCGGAGGCAGTG	0.647000													10	19					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					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)				TGTATTTCAAGTGTAAGATCC	0.299000								Non-homologous end-joining					8	28					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:36700037G>A	ENST00000255448.4	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507000													40	122					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956564	93956564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:93956564T>A	ENST00000369303.4	-	15	2856	c.2672A>T	c.(2671-2673)gAc>gTc	p.D891V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCC	0.433000													44	112					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284						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)		TGTGAGGCTTCCTGTCCGGCT	0.572000													62	30					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:225662626T>A	ENST00000409592.3	-	42	4662	c.4549A>T	c.(4549-4551)Atg>Ttg	p.M1517L	DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408000													51	58					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:7579521C>A	ENST00000420246.2	-	4	298	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)		CCTGGGTCTTCAGTGAACCAT	0.597000		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)			85	197					9.01214e-43	1.04936e-42	1	1	0
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632000													37	82					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Splice_Site	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.647_splice	c.e3-1	p.F217_splice		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602000													11	51					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303000													23	67					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667000													10	11					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:37508487C>T	ENST00000374660.1	+	40	4135	c.4036C>T	c.(4036-4038)Cat>Tat	p.H1346Y	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373000													19	51					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784853	9784853	+	Missense_Mutation	SNP	C	C	G	rs114936842	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:9784853C>G	ENST00000304374.2	+	1	1596	c.1200C>G	c.(1198-1200)atC>atG	p.I400M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	400					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.I400M(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ACCAAGACATCGTCTTCCACA	0.592000													3	66					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443000													23	54					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													8	102					6.31663e-08	6.75363e-08	1	1	0
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Splice_Site	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1533_splice	c.e7+1	p.S511_splice	ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547000													12	67					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	90					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016313	25016313	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:25016313T>A	ENST00000400382.1	+	8	1156	c.401T>A	c.(400-402)gTg>gAg	p.V134E	GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	134					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCGGTGGCGGTGCCTGGGGAG	0.682000													5	40					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Splice_Site	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:57876368T>G	ENST00000510355.1	+	1	28		c.e1+2		POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353000													9	11					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:102982244G>A	ENST00000412522.1	-	2	429	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000379263.3_Silent_p.P74P|DNAJC2_ENST00000249270.7_Silent_p.P74P			Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373000													57	115					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289117	38289117	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38289117C>A	ENST00000436911.2	-	0	56																											TTTGTTTCAGCAATCGAAGGA	0.358000													104	170					1.95558e-62	2.29275e-62	1	1	0
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:4892155A>T	ENST00000343762.5	+	0	344				CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I	NM_001143971.1	NP_001137443.1	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483000													41	45					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493000													58	108					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:16032716G>T	ENST00000350896.3	-	3	394	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413000													25	61					4.26978e-12	4.71339e-12	1	1	0
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582000													13	15					1.67942e-08	1.80697e-08	1	1	0
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607000													19	96					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:98480263G>T	ENST00000295268.3	-	11	1415	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTTTCTCCTGGGATATCTGTT	0.279000													64	75					3.8688e-20	4.38464e-20	1	1	0
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343000													18	18					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:114112358G>A	ENST00000332592.3	-	5	401	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C			Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443000											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	446					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338000													19	51					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423000													69	119					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587000													10	16					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													8	95					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:45768678C>G	ENST00000405872.1	-	2	428	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388000													93	160					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637000													50	84					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:18962744G>A	ENST00000420770.2	+	4	548	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	155	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522000			T	FOXO1A	alveolar rhabdomyosarcoma								47	100					0	0	1	0	0
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716000													3	56					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000399334.3_Silent_p.L745L|CEP152_ENST00000325747.5_Silent_p.L652L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423000													178	103					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378000													81	155					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885835	43885835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:43885835C>T	ENST00000562955.1	+	9	1102	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	368						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCAGCACCGCCTATTTAA	0.562000													4	72					0	0	1	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95436422	95436422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:95436422C>T	ENST00000359204.4	-	12	1011	c.814G>A	c.(814-816)Gat>Aat	p.D272N	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	272						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTAGAGAATCTTCAGATTTC	0.294000													14	21					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582000										HNSCC(7;0.00092)			101	78					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52865661	52865661	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:52865661C>A	ENST00000451298.1	-	0	31				RP11-64P12.8_ENST00000606031.1_RNA																							AAGGATGACACAATTGAATGA	0.289000													3	31					0.004672	0.00475593	1	1	0
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:95591793T>C	ENST00000393223.3	-	8	918	c.256A>G	c.(256-258)Att>Gtt	p.I86V	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313000													61	106					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657000													22	41					3.62473e-10	3.95003e-10	1	1	0
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478000													20	51					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587000													44	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:179501212C>G	ENST00000589042.1	-	225	41466	c.41242G>C	c.(41242-41244)Gtt>Ctt	p.V13748L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 93.						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)			GAAAGTTGAACATCAATGATG	0.418000													30	161					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617000													13	47					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597000													40	92					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTAGCACTTGTTCAGGGAAA	0.333000													44	182					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338000													36	103					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313000													14	25					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTCTCAAAAAATGGGAGGTT	0.358000													59	102					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517000													70	136					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr6:151672560T>C	ENST00000402676.2	+	4	3274	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577000													3	77					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													3	23					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:203745631T>C	ENST00000261015.3	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	408	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323000													28	23					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:139905642C>T	ENST00000265662.5	-	38	6066	c.5919G>A	c.(5917-5919)aaG>aaA	p.K1973K	ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607000													34	119					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532000			T	BCL6	NHL								25	59					0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23728528	23728528	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr20:23728528C>T	ENST00000304749.2	-	3	421	c.351G>A	c.(349-351)ttG>ttA	p.L117L	CST1_ENST00000398402.1_Silent_p.L117L	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	117						extracellular region	cysteine-type endopeptidase inhibitor activity	p.L117L(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CGAAAGAGCACAACTGTTTCT	0.527000													5	146					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458000													9	193					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338000													60	187					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214816433	214816433	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:214816433C>A	ENST00000366955.3	+	12	4920	c.4752C>A	c.(4750-4752)ctC>ctA	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCAAGAGCTCGAGCAGTTAT	0.443000													3	95					1	1	1	1	0
ATG13	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:46681003A>G	ENST00000434074.1	+	10	1446	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	253					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGAAGTGTGTACCACCTCTTT	0.433000													33	70					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140523	123140523	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:123140523A>G	ENST00000264501.4	+	21	2649	c.2276A>G	c.(2275-2277)tAt>tGt	p.Y759C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C			Q2LD37	K1109_HUMAN	KIAA1109	759					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGACATGTATATGGATTTT	0.353000													73	209					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32480416	32480416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:32480416C>T	ENST00000548411.1	+	5	1208	c.1027C>T	c.(1027-1029)Ctt>Ttt	p.L343F	BICD1_ENST00000281474.5_Missense_Mutation_p.L343F	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	343					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AAAGGCCATTCTTTTGGCCAA	0.527000													37	93					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43907942	43907942	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:43907942C>G	ENST00000562955.1	+	56	7706	c.7706C>G	c.(7705-7707)gCc>gGc	p.A2569G	SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2626						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCTGTAGCTGCCAAAGCCATG	0.602000													12	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179597359	179597359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:179597359T>C	ENST00000589042.1	-	56	16653	c.16429A>G	c.(16429-16431)Act>Gct	p.T5477A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5160	Ig-like 35.						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)			GTGAGAGGAGTAGATCCTTGG	0.468000													23	67					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37491963	37491963	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:37491963T>C	ENST00000381792.2	-	5	712	c.572A>G	c.(571-573)gAg>gGg	p.E191G	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	200					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTAGGCCCTCGGGGTCCAC	0.647000													36	81					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:28264676C>G	ENST00000405948.2	+	5	1146	c.726C>G	c.(724-726)ctC>ctG	p.L242L	PGBD1_ENST00000259883.3_Silent_p.L242L	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512000													4	80					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27600997	27600997	+	Silent	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:27600997A>C	ENST00000323703.6	-	4	1239	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G	ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	347					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCACTGGCACCCCCTCCAG	0.662000													10	52					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391868	31391868	+	Missense_Mutation	SNP	G	G	T	rs143612140		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:31391868G>T	ENST00000268296.4	+	28	3320	c.3199G>T	c.(3199-3201)Gtg>Ttg	p.V1067L	ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1067					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGTGTCGGTCGTGAGTGTGGC	0.562000													21	23					1.87028e-06	1.91124e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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)			18	38					0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967589	54967589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:54967589G>A	ENST00000394636.4	+	3	1593	c.1256G>A	c.(1255-1257)gGa>gAa	p.G419E	IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E			P78411	IRX5_HUMAN	iroquois homeobox 5	419					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGCTCCTTCGGACACCTTCAT	0.637000													20	79					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46721156	46721156	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:46721156T>A	ENST00000398576.2	-	13	1449	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	LCP1_ENST00000323076.2_Missense_Mutation_p.D354V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	354	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCGGACAACATCTGTGGCTGT	0.532000			T	BCL6	NHL								25	59					0	0	1	0	0
MYL4	4635	broad.mit.edu	37	17	45291173	45291173	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:45291173C>T	ENST00000354968.1	+	3	272	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	48					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						AGATAGACTTCACTGCCGACC	0.507000													84	150					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956565	93956565	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:93956565C>A	ENST00000369303.4	-	15	2855	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.D891Y(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCATTTTGTCTAGAATTCCA	0.433000													43	110					6.4771e-29	7.02941e-29	1	1	0
SCYL1	57410	broad.mit.edu	37	11	65304218	65304218	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:65304218G>A	ENST00000524944.1	+	13	1846	c.1813G>A	c.(1813-1815)Gaa>Aaa	p.E605K	SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	605	Pro-rich.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ACCCACGCCTGAAGGTGAGTG	0.607000													49	125					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412212	139412212	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:139412212C>T	ENST00000277541.6	-	8	1508	c.1433G>A	c.(1432-1434)tGc>tAc	p.C478Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C478F(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCGGGCATGCAGATGCACTG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			104	29					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136448238	136448238	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:136448238C>T	ENST00000394945.1	-	5	529	c.360G>A	c.(358-360)ggG>ggA	p.G120G	SPOCK1_ENST00000282223.7_Silent_p.G120G	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	120					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGGCCACGTTCCCCTTCTTTT	0.488000													22	70					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414261	179414261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:179414261C>G	ENST00000367618.3	+	16	2107	c.1720C>G	c.(1720-1722)Cga>Gga	p.R574G	AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	574										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GCCATCAGAGCGACAGTACAT	0.338000													35	67					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													4	100					0	0	1	0	0
MEIOB	254528	broad.mit.edu	37	16	1894871	1894871	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:1894871G>C	ENST00000412554.2	-	10	1066	c.872C>G	c.(871-873)tCc>tGc	p.S291C	MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains																		ACAATTTATGGATTCTTTGAA	0.308000													18	12					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180155269	180155269	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:180155269A>G	ENST00000367602.3	+	8	1043	c.969A>G	c.(967-969)gaA>gaG	p.E323E	QSOX1_ENST00000367600.5_Silent_p.E323E			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	323					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGGTCCTGGAAGGGCAGCGCC	0.577000													20	53					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537622	55537622	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:55537622A>G	ENST00000220676.1	+	4	1328	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	394					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTGTCACCTATGGAGCGAAG	0.423000													29	105					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579760	55579760	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:55579760T>G	ENST00000333973.2	+	1	907	c.818T>G	c.(817-819)gTg>gGg	p.V273G		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCTGACAAAGTGGCCACCGTG	0.473000													33	70					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215777507	215777507	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:215777507G>A	ENST00000259154.4	+	13	1466	c.1172G>A	c.(1171-1173)gGt>gAt	p.G391D		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	391						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATCGCCTATGGTACGAGCTCT	0.453000													33	86					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15601453	15601453	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:15601453G>T	ENST00000342526.3	-	1	187	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	6					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CATCCTGCTGGGCTTCTGGGT	0.443000													35	150					2.68265e-12	2.82384e-12	1	1	0
RSPO2	340419	broad.mit.edu	37	8	108972911	108972911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:108972911C>T	ENST00000276659.5	-	4	1038	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	140					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCCACACATTCCATGGTTTCT	0.348000													22	149					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47630398	47630398	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:47630398G>C	ENST00000371917.4	+	30	4080	c.4080G>C	c.(4078-4080)aaG>aaC	p.K1360N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1360					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGATCATGAAGAGCTATGGCC	0.473000													42	153					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	468941	468941	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:468941C>A	ENST00000280886.6	-	5	514	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L	DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	143						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCCCTGCACTGAGCCTTCA	0.562000													58	128					7.10663e-31	7.77287e-31	1	1	0
ATG4D	84971	broad.mit.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:10655726C>G	ENST00000309469.4	+	3	586	c.413C>G	c.(412-414)tCg>tGg	p.S138W	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632000													18	266					0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58557303	58557303	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:58557303A>T	ENST00000317147.5	-	47	7220	c.6888T>A	c.(6886-6888)aaT>aaA	p.N2296K	CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K|CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2296					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGGCTTCCGTATTGGCCTCTG	0.413000													35	164					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153906274	153906274	+	Silent	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:153906274C>G	ENST00000361217.4	-	20	3433	c.3015G>C	c.(3013-3015)ctG>ctC	p.L1005L		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1005										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)			CTGTCAGGCTCAGGTCTGAGA	0.642000													13	14					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277201	152277201	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:152277201G>A	ENST00000368799.1	-	3	10196	c.10161C>T	c.(10159-10161)ctC>ctT	p.L3387L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3387	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCTGGTAGAGGAAAGACC	0.612000									Ichthyosis				201	385					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121207907	121207907	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:121207907G>C	ENST00000264233.5	-	16	3999	c.3871C>G	c.(3871-3873)Cta>Gta	p.L1291V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1291					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCTTGTAGTCTAGAAATA	0.333000								DNA polymerases (catalytic subunits)					64	200					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420364	27420364	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:27420364T>C	ENST00000211936.6	-	6	1258	c.974A>G	c.(973-975)cAg>cGg	p.Q325R	ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGAATTCTCTGATGCTGAAC	0.403000													32	42					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:111912597G>A	ENST00000368761.5	-	2	1171	c.693C>T	c.(691-693)ctC>ctT	p.L231L	TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572000													62	99					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204885	66204885	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:66204885C>A	ENST00000503581.1	-	4	956	c.419G>T	c.(418-420)tGg>tTg	p.W140L	EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	140					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACACTCAGCCACTTAGAATT	0.423000													39	79					6.97489e-18	7.39761e-18	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17088291	17088291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:17088291C>T	ENST00000443236.1	-	15	1817	c.1786G>A	c.(1786-1788)Gtg>Atg	p.V596M	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	549						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CTGGGGGTCACGGCCAGATGA	0.592000													29	51					0	0	1	0	0
WBP11	51729	broad.mit.edu	37	12	14946725	14946725	+	Missense_Mutation	SNP	C	C	T	rs150908147		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:14946725C>T	ENST00000261167.2	-	8	1086	c.853G>A	c.(853-855)Ggg>Agg	p.G285R	WBP11_ENST00000537574.1_Missense_Mutation_p.G285R	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	285	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding	p.G285W(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AATTCATCCCCGTCACTTTCT	0.423000													128	262					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901976	14901976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:14901976C>T	ENST00000334636.5	-	3	752	c.706G>A	c.(706-708)Ggc>Agc	p.G236S	CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	236					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGCAGGATGCCAATCCATGGA	0.398000													31	83					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955178	107955178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:107955178G>A	ENST00000317357.5	+	6	1789	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	377	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCTCCCCTTGGCGTCCCGCCT	0.647000													47	97					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49428450	49428450	+	Splice_Site	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:49428450C>G	ENST00000301067.7	-	36	10355		c.e36-1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACTTGCTGTCTGGAGTCCAC	0.547000													7	27					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18629869	18629869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:18629869G>A	ENST00000377329.4	+	1	204	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000282343.8_Intron	NM_201590.2	NP_963884.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGACAGACGCCTTATAGCT	0.478000													48	120					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850657	58850657	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:58850657G>A	ENST00000329665.4	+	3	1588	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGCCCTGATGGTTCACTTGCG	0.587000													28	44					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38181550	38181550	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:38181550G>A	ENST00000330210.7	-	14	1939	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR|EPHA10_ENST00000540011.1_3'UTR			Q5JZY3	EPHAA_HUMAN	EPH receptor A10	0	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATCTCAGACGCAGATTCTGG	0.557000													18	43					0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96437264	96437264	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:96437264G>C	ENST00000359246.4	+	19	3049	c.2682G>C	c.(2680-2682)aaG>aaC	p.K894N	PHF2_ENST00000375376.4_Missense_Mutation_p.K125N	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	894					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCCGGTCGAAGAAAAGGAAAG	0.582000													17	94					0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35242348	35242348	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:35242348G>C	ENST00000408931.3	-	8	1564	c.1038C>G	c.(1036-1038)ctC>ctG	p.L346L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	346						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						CCCAGGAGCTGAGAGACAAAT	0.438000													3	18					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645415	122645415	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:122645415G>A	ENST00000195173.4	-	9	1263	c.960C>T	c.(958-960)cgC>cgT	p.R320R	SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	320	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TCTTGCACACGCGGGCCACGC	0.617000													19	58					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66739354	66739354	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:66739354T>C	ENST00000488550.1	+	8	1115	c.816T>C	c.(814-816)cgT>cgC	p.R272R	MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000398506.2_Silent_p.R270R			O00470	MEIS1_HUMAN	Meis homeobox 1	272			R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693).				sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						ACAAAAAGCGTCACAAAAAGC	0.438000													16	14					0	0	1	0	0
MROH1	727957	broad.mit.edu	37	8	145223234	145223234	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:145223234A>G	ENST00000528919.1	+	3	180	c.59A>G	c.(58-60)aAg>aGg	p.K20R	MROH1_ENST00000423230.2_Missense_Mutation_p.K20R|MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R	NM_032450.2	NP_115826.2			maestro heat-like repeat family member 1																		ATCACCGATAAGGACCCCCTG	0.667000													28	31					0	0	1	0	0
PON3	5446	broad.mit.edu	37	7	95019514	95019514	+	Silent	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:95019514G>C	ENST00000265627.5	-	3	163	c.153C>G	c.(151-153)ggC>ggG	p.G51G	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TATCTTCAGAGCCACTTTCTG	0.378000													101	225					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86328538	86328538	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:86328538T>C	ENST00000355238.6	-	10	1484	c.1278A>G	c.(1276-1278)caA>caG	p.Q426Q	SYNCRIP_ENST00000369622.3_Silent_p.Q426Q	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	426	Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TCACTCACATTTGATTTTTTG	0.308000													7	19					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717416	222717416	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:222717416G>A	ENST00000343410.6	-	2	495	c.437C>T	c.(436-438)tCa>tTa	p.S146L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	146					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGAAATGGCTGAGTGACAGTT	0.587000													70	142					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6077129	6077129	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:6077129T>C	ENST00000199389.6	-	11	1404	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	420	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AAAATTTTTGTTGCAACATTG	0.323000													58	173					0	0	1	0	0
RPS25	6230	broad.mit.edu	37	11	118888677	118888677	+	Silent	SNP	G	G	A	rs3209457		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:118888677G>A	ENST00000527673.1	-	2	495	c.90C>T	c.(88-90)gcC>gcT	p.A30A	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	30					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CCTTCTTTTTGGCCTTGCCCC	0.468000													63	128					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97174295	97174295	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:97174295G>A	ENST00000371247.2	-	9	955	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000371239.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	256					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGACTCTGCGGAGGTCCTCC	0.637000													24	58					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76464798	76464798	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:76464798G>A	ENST00000389840.5	-	55	8761	c.8637C>T	c.(8635-8637)atC>atT	p.I2879I	DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGAGGAGATGATGTTCTCCA	0.537000													28	61					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294291	110294291	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:110294291G>A	ENST00000369805.3	-	16	1780	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G	RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.G486G|EPS8L3_ENST00000361965.4_Silent_p.G516G	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	516						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGGTGACTGGCCCTGGGTCC	0.622000													33	44					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754297	76754297	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr18:76754297C>T	ENST00000536229.3	+	1	2616	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ATCCCCAACACGCCGCTGCCG	0.637000													17	28					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56222003	56222003	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:56222003T>A	ENST00000357606.3	-	3	729	c.440A>T	c.(439-441)aAt>aTt	p.N147I	DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	147					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAAGAACCATTTCCTCCCTC	0.483000													91	161					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905961	153905961	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:153905961C>T	ENST00000361217.4	-	20	3746	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1110	Ser-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)			CTGGCTACCTCGGAGGCAGTG	0.647000													10	19					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48845609	48845609	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:48845609G>C	ENST00000314191.2	-	16	1803	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	583					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)				TGTATTTCAAGTGTAAGATCC	0.299000								Non-homologous end-joining					8	28					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													6	59					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:36700037G>A	ENST00000255448.4	-	2	449	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W|DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GATCGGAACCGGTCTGGGGAG	0.507000													40	122					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93956564	93956564	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:93956564T>A	ENST00000369303.4	-	15	2856	c.2672A>T	c.(2671-2673)gAc>gTc	p.D891V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	891	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATCATTTTGTCTAGAATTCC	0.433000													44	112					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43027800	43027800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:43027800C>T	ENST00000356231.3	-	4	874	c.851G>A	c.(850-852)gGa>gAa	p.G284E		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	284						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)		TGTGAGGCTTCCTGTCCGGCT	0.572000													62	30					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225662626	225662626	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:225662626T>A	ENST00000409592.3	-	42	4662	c.4549A>T	c.(4549-4551)Atg>Ttg	p.M1517L	DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1523							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAAAAGAGCATGTAGGTATCA	0.408000													51	58					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													8	184					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95713749	95713749	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:95713749C>T	ENST00000309988.4	+	2	248	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	47	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CTCCCTGGTGCCCTGGCCCCT	0.632000													37	82					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31534395	31534395	+	Splice_Site	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:31534395A>G	ENST00000215885.3	-	3	901	c.647_splice	c.e3-1	p.F217_splice		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	217	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CATTGCTGAAACCTGCCCCAG	0.602000													11	51					0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365282	128365282	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:128365282G>C	ENST00000262462.4	+	9	2575	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	522					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TATGAAGGAAGAGCAGGAATG	0.303000													23	67					0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2086358	2086358	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:2086358C>T	ENST00000424542.2	+	3	586	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	150	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GCTGCGCCCTCGGCTCTGCCA	0.667000													10	11					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508487	37508487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:37508487C>T	ENST00000374660.1	+	40	4135	c.4036C>T	c.(4036-4038)Cat>Tat	p.H1346Y	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1283						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.H1227D(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGTTTCAGAACATGCACAAAG	0.373000													19	51					0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10433762	10433762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:10433762C>T	ENST00000274140.5	+	26	2831	c.2699C>T	c.(2698-2700)tCa>tTa	p.S900L	MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	900					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AAACAAGGCTCATCTCCACCA	0.443000													23	54					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579521	7579521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:7579521C>A	ENST00000420246.2	-	4	298	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	56	Interaction with HRMT1L2.		E -> K (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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)		CCTGGGTCTTCAGTGAACCAT	0.597000		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)			85	197					9.01214e-43	9.93464e-43	1	1	0
ADCY3	109	broad.mit.edu	37	2	25061315	25061315	+	Splice_Site	SNP	G	G	A	rs139407103	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:25061315G>A	ENST00000260600.5	-	7	2383	c.1533_splice	c.e7+1	p.S511_splice	ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	511					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					ggAACTCACCGAGCCATTGAG	0.547000													12	67					0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25016313	25016313	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:25016313T>A	ENST00000400382.1	+	8	1156	c.401T>A	c.(400-402)gTg>gAg	p.V134E	GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	134					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCGGTGGCGGTGCCTGGGGAG	0.682000													5	40					0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102982244	102982244	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:102982244G>A	ENST00000412522.1	-	2	429	c.222C>T	c.(220-222)ccC>ccT	p.P74P	DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000379263.3_Silent_p.P74P			Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	74					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTTCAGCATGGGAAACTCTT	0.373000													57	115					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68849489	68849489	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:68849489C>T	ENST00000261769.5	+	10	1583	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	464	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CTTTTGAGGTCTCTCTCACCA	0.498000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				69	66					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905642	139905642	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:139905642C>T	ENST00000265662.5	-	38	6066	c.5919G>A	c.(5917-5919)aaG>aaA	p.K1973K	ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1972					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCACCAATCTTGGCGTAGT	0.607000													34	119					0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892155	4892155	+	Translation_Start_Site	SNP	A	A	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:4892155A>T	ENST00000343762.5	+	0	344				CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I	NM_001143971.1	NP_001137443.1	Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TCTCCCAACAATGCTAGGAAA	0.483000													41	45					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201965306	201965306	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:201965306G>C	ENST00000295640.4	+	4	812	c.769G>C	c.(769-771)Gat>Cat	p.D257H	RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	257					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGCCTGATTGATGCTGCCAA	0.493000													58	108					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16032716	16032716	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:16032716G>T	ENST00000350896.3	-	3	394	c.197C>A	c.(196-198)cCt>cAt	p.P66H	MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	66					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAATGAGAGGGATGAGAAC	0.413000													25	61					4.26978e-12	4.46096e-12	1	1	0
SH3BP4	23677	broad.mit.edu	37	2	235951774	235951774	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:235951774C>A	ENST00000409212.1	+	4	2868	c.2361C>A	c.(2359-2361)tgC>tgA	p.C787*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	787					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.C787C(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTTTTTCTGCCGGGCAGAGC	0.582000													13	15					1.67942e-08	1.72881e-08	1	1	0
AMPH	273	broad.mit.edu	37	7	38431514	38431514	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:38431514G>A	ENST00000356264.2	-	19	1928	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	571					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GAGGAGCCGCGTCCTCGGTGG	0.607000													19	96					0	0	1	0	0
STPG2	285555	broad.mit.edu	37	4	98480263	98480263	+	Silent	SNP	G	G	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:98480263G>T	ENST00000295268.3	-	11	1415	c.1326C>A	c.(1324-1326)tcC>tcA	p.S442S	RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron	NM_174952.2	NP_777612.1			sperm-tail PG-rich repeat containing 2																		TTTTCTCCTGGGATATCTGTT	0.279000													64	75					3.8688e-20	4.1664e-20	1	1	0
HACL1	26061	broad.mit.edu	37	3	15616518	15616518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:15616518G>A	ENST00000321169.5	-	10	1242	c.875C>T	c.(874-876)cCt>cTt	p.P292L	HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	292					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						ATATCTTGGAGGCAGTCCAAA	0.343000													18	18					0	0	1	0	0
DCUN1D2	55208	broad.mit.edu	37	13	114112358	114112358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:114112358G>A	ENST00000332592.3	-	5	401	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C			Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	256	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			AAAAGGCTGCGTTTTCCACCT	0.443000											OREG0022535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	446					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152135384	152135384	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:152135384T>C	ENST00000243346.5	-	4	768	c.298A>G	c.(298-300)Ata>Gta	p.I100V		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	100					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CCTTTTTGTATCTCATAAGGA	0.338000													19	51					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651080	96651080	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:96651080A>G	ENST00000302103.5	+	3	375	c.49A>G	c.(49-51)Att>Gtt	p.I17V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATTGTCTGCATTATCCTGGG	0.423000													69	119					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8435950	8435950	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr19:8435950G>C	ENST00000301455.2	+	5	843	c.672G>C	c.(670-672)tgG>tgC	p.W224C	ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	224	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						ATGGAGGCTGGACAGTAATTC	0.587000													10	16					0	0	1	0	0
KCTD4	386618	broad.mit.edu	37	13	45768678	45768678	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr13:45768678C>G	ENST00000405872.1	-	2	428	c.25G>C	c.(25-27)Gaa>Caa	p.E9Q	KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q|GTF2F2_ENST00000340473.6_Intron	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	9						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TTTTCTTTTTCTCTTCTGTTT	0.388000													93	160					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73118115	73118115	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:73118115C>G	ENST00000222812.3	-	7	536	c.510G>C	c.(508-510)gaG>gaC	p.E170D	STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	170					energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCCACTCTCCAGCATGT	0.637000													50	84					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	18962744	18962744	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:18962744G>A	ENST00000420770.2	+	4	548	c.465G>A	c.(463-465)tcG>tcA	p.S155S	PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	155	Paired.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		TAGTGAGTTCGATTAGCCGCG	0.522000			T	FOXO1A	alveolar rhabdomyosarcoma								47	100					0	0	1	0	0
CXCL6	6372	broad.mit.edu	37	4	74702557	74702557	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:74702557G>A	ENST00000226317.5	+	1	344	c.90G>A	c.(88-90)ccG>ccA	p.P30P	CXCL6_ENST00000515050.1_Silent_p.P30P	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	30					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGCTGACGCCGCCGGGGCCCC	0.716000													3	56					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059304	49059304	+	Silent	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:49059304A>G	ENST00000380950.2	-	17	2420	c.2233T>C	c.(2233-2235)Ttg>Ctg	p.L745L	CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000399334.3_Silent_p.L745L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	745					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGAGAGTCAATTCTAGATTA	0.423000													178	103					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13438772	13438772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:13438772C>T	ENST00000278174.5	-	5	865	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	207	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		CTCATTGGGTCGTGTAAAGTT	0.378000													81	155					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43885835	43885835	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:43885835C>T	ENST00000562955.1	+	9	1102	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	368						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCTCAGCACCGCCTATTTAA	0.562000													4	72					0	0	1	0	0
FRA10AC1	118924	broad.mit.edu	37	10	95436422	95436422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:95436422C>T	ENST00000359204.4	-	12	1011	c.814G>A	c.(814-816)Gat>Aat	p.D272N	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	272						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AGTAGAGAATCTTCAGATTTC	0.294000													14	21					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139606419	139606419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr8:139606419G>A	ENST00000303045.6	-	63	4902	c.4456C>T	c.(4456-4458)Cag>Tag	p.Q1486*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1486	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGGCATCTGGGCCAGGAGG	0.582000										HNSCC(7;0.00092)			101	78					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95591793	95591793	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:95591793T>C	ENST00000393223.3	-	8	918	c.256A>G	c.(256-258)Att>Gtt	p.I86V	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	158	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAATTCCTAATATCCTAGAAA	0.313000													61	106					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98355850	98355850	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:98355850C>A	ENST00000264972.5	+	14	1964	c.1749C>A	c.(1747-1749)cgC>cgA	p.R583R	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	583	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGAGGATCGCCCCGACTTCC	0.657000													22	41					3.62473e-10	3.75898e-10	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11397249	11397249	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr5:11397249G>A	ENST00000304623.8	-	6	695	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	169					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGCTGGCCGGATACTGGAA	0.587000													44	74					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179501212	179501212	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:179501212C>G	ENST00000589042.1	-	225	41466	c.41242G>C	c.(41242-41244)Gtt>Ctt	p.V13748L	TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12107	Ig-like 93.						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)			GAAAGTTGAACATCAATGATG	0.418000													30	161					0	0	1	0	0
FOXS1	2307	broad.mit.edu	37	20	30432595	30432595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:30432595G>A	ENST00000375978.3	-	1	825	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	251					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCCTGCAGCCGACACTGGTAG	0.617000													13	47					0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195526	3195526	+	Silent	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:3195526C>T	ENST00000323404.1	-	1	350	c.351G>A	c.(349-351)ctG>ctA	p.L117L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TGGCGGTCAGCAGGAAGCAGT	0.597000													40	92					0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454754	130454754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:130454754G>C	ENST00000356763.3	-	3	1383	c.826C>G	c.(826-828)Caa>Gaa	p.Q276E		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	276	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTAGCACTTGTTCAGGGAAA	0.333000													44	182					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56712923	56712923	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:56712923T>C	ENST00000425394.2	-	24	3701	c.3325A>G	c.(3325-3327)Atg>Gtg	p.M1109V	PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1109	Exonuclease.				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						TTTCGGGGCATATGGAACAGG	0.498000													24	55					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144779962	144779962	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:144779962A>C	ENST00000367545.3	+	19	2341	c.2341A>C	c.(2341-2343)Aag>Cag	p.K781Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	781	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATCAGAATGGAAGAATGTATC	0.338000													36	103					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726517	63726517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:63726517C>T	ENST00000421025.1	+	5	775	c.506C>T	c.(505-507)tCa>tTa	p.S169L	ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GGCAAATTTTCAAATTCCAAT	0.313000													14	25					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150903227	150903227	+	Silent	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:150903227G>A	ENST00000474524.1	+	11	1643	c.1605G>A	c.(1603-1605)agG>agA	p.R535R	MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	535					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGAGAAGAGGCAAGCAGAAA	0.478000													20	51					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233522	21233522	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:21233522A>G	ENST00000233242.1	-	26	6345	c.6218T>C	c.(6217-6219)tTt>tCt	p.F2073S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2073	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGTCTCAAAAAATGGGAGGTT	0.358000													59	102					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	C	T	rs144033515	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:5529987C>T	ENST00000311659.4	-	2	949	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517000													70	136					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672560	151672560	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr6:151672560T>C	ENST00000402676.2	+	4	3274	c.3034T>C	c.(3034-3036)Tcc>Ccc	p.S1012P	AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1012					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTTAACCGACTCCCCAGACAC	0.577000													3	77					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203745631	203745631	+	Silent	SNP	T	T	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:203745631T>C	ENST00000261015.3	-	13	1973	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	408	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						AGGAATACAATTTATTGTCTG	0.323000													28	23					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289117	38289117	+	RNA	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:38289117C>A	ENST00000436911.2	-	0	56																											TTTGTTTCAGCAATCGAAGGA	0.358000													104	170					1.95558e-62	2.17287e-62	1	1	0
WDR76	79968	broad.mit.edu	37	15	44143363	44143363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:44143363G>A	ENST00000263795.6	+	9	1181	c.1111G>A	c.(1111-1113)Gcc>Acc	p.A371T	WDR76_ENST00000381246.2_Missense_Mutation_p.A307T	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	371										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		CTTCTCACCCGCCAATCCGGC	0.458000													9	193					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71227862	71227862	+	Silent	SNP	T	T	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr4:71227862T>G	ENST00000226460.4	+	2	126	c.30T>G	c.(28-30)ctT>ctG	p.L10L		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	10						extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTGGGCCTTTGGGCTCTTG	0.338000													60	187					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214816433	214816433	+	Silent	SNP	C	C	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:214816433C>A	ENST00000366955.3	+	12	4920	c.4752C>A	c.(4750-4752)ctC>ctA	p.L1584L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1680	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTCAAGAGCTCGAGCAGTTAT	0.443000													3	95					1	1	1	1	0
ATG13	9776	broad.mit.edu	37	11	46681003	46681003	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:46681003A>G	ENST00000434074.1	+	10	1446	c.757A>G	c.(757-759)Acc>Gcc	p.T253A	ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	253					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AGAAGTGTGTACCACCTCTTT	0.433000													33	70					0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6638981	6638982	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:6638981_6638982insT	ENST00000333172.6	+	6	2056_2057	c.1863_1864insT	c.(1861-1866)ggtcttfs	p.L622fs	TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs|TAS1R1_ENST00000328191.4_3'UTR	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	622					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GCCTCTATGGCTTCTTTGGGGA	0.599													9	108	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27874007	27874008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:27874007_27874008insC	ENST00000374011.2	-	6	5587_5588	c.4619_4620insG	c.(4618-4620)tccfs	p.S1540fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1540							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAAGGAGTGGGCAGCCATAGCC	0.693													15	55	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr1:152276467_152276468insGGA	ENST00000368799.1	-	3	10929_10930	c.10894_10895insTCC	c.(10894-10896)gtc>TCCgtc	p.3631_3632insS	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis				7	966	---	---	---	---					
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)ggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618													26	18	---	---	---	---					
USP19	10869	broad.mit.edu	37	3	49149418	49149419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:49149418_49149419insT	ENST00000453664.1	-	20	3110_3111	c.2792_2793insA	c.(2791-2793)tccfs	p.S931fs	USP19_ENST00000434032.2_Frame_Shift_Ins_p.S941fs|USP19_ENST00000417901.1_Frame_Shift_Ins_p.S943fs|USP19_ENST00000398888.2_Frame_Shift_Ins_p.S840fs|USP19_ENST00000398892.3_Frame_Shift_Ins_p.S880fs|USP19_ENST00000398896.1_Frame_Shift_Ins_p.S648fs|USP19_ENST00000398898.2_Frame_Shift_Ins_p.S880fs	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	840					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.Y928*(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGGAAGGGGTAGCCAATGTT	0.594													7	48	---	---	---	---					
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421													62	63	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2416669	2416670	+	Frame_Shift_Ins	INS	-	-	G	rs149919744	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:2416669_2416670insG	ENST00000360876.4	+	15	2169_2170	c.2113_2114insG	c.(2113-2115)gccfs	p.A705fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	705					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCTGCTGTGGCGGCCCCGGCCT	0.634													18	94	---	---	---	---					
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)cccfs	p.P110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614													25	140	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C	rs34537355		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)accfs	p.T306fs	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639													14	124	---	---	---	---					
FAM189A2	9413	broad.mit.edu	37	9	72006640	72006641	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:72006640_72006641insG	ENST00000257515.8	+	11	1693_1694	c.1273_1274insG	c.(1273-1275)agcfs	p.S425fs	FAM189A2_ENST00000303068.7_Frame_Shift_Ins_p.S260fs|FAM189A2_ENST00000377216.3_Frame_Shift_Ins_p.S212fs|FAM189A2_ENST00000455972.1_Frame_Shift_Ins_p.S425fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	425						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGGGAGGCCCCGAGCCGAGAGG	0.668													17	69	---	---	---	---					
DFNB31	25861	broad.mit.edu	37	9	117185698	117185699	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:117185698_117185699insC	ENST00000362057.3	-	7	1689_1690	c.1521_1522insG	c.(1519-1524)caccccfs	p.H507fs	DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.H124fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.H156fs	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	507					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCCTGGGGGCTGCCGCGCCT	0.639													68	243	---	---	---	---					
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)ccfs	p.A323fs	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721													16	15	---	---	---	---					
LOC399815	399815	broad.mit.edu	37	10	124654324	124654325	+	RNA	INS	-	-	GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	rs144762615	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA	ENST00000425266.1	+	0	291																											TCTCCCTTCTTGTTACTAGTTT	0.386													4	7	---	---	---	---					
AMPD3	272	broad.mit.edu	37	11	10500152	10500153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:10500152_10500153insC	ENST00000396554.3	+	3	669_670	c.328_329insC	c.(328-330)agcfs	p.S110fs	AMPD3_ENST00000444303.2_Intron	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	101					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGGCCCCCCGGCAGCCAGTCCG	0.589													50	190	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)tggfs	p.W482fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589													16	102	---	---	---	---					
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctfs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	141						intracellular	zinc ion binding										AGGAGCTCCTAAAAAAAATGC	0.403													19	65	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546320	11546322	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:11546320_11546322delTTG	ENST00000389362.4	-	3	725_727	c.690_692delCAA	c.(688-693)aag>aa	p.NK230del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTTGGGACTTGTTGTCTCCTT	0.601													9	888	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr12:49431260_49431264delCTGGG	ENST00000301067.7	-	34	9874_9878	c.9875_9879delCCCAG	c.(9874-9879)gfs	p.AQ3292fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAGACATGGCCTGGGCAGGGCCTGG	0.610													6	4	---	---	---	---					
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1618-1623)cccaag>ccGCGcaag	p.540_541PK>PRK	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	540	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					44	128	---	---	---	---					
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(100-105)gcccaafs	p.Q35fs	MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594													7	183	---	---	---	---					
RPAP1	26015	broad.mit.edu	37	15	41814429	41814430	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr15:41814429_41814430insC	ENST00000304330.4	-	20	2877_2878	c.2761_2762insG	c.(2761-2763)cccfs	p.P921fs	RPAP1_ENST00000561603.1_Frame_Shift_Ins_p.P921fs	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	921	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGTCCCGGGGCAGCCAATATG	0.569													22	45	---	---	---	---					
BAIAP3	8938	broad.mit.edu	37	16	1389185	1389191	+	Frame_Shift_Del	DEL	GCCAGCA	GCCAGCA	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr16:1389185_1389191delGCCAGCA	ENST00000324385.5	+	4	503_509	c.345_351delGCCAGCA	c.(343-351)tcfs	p.SPA115fs	BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.SPA97fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.SPA97fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	115					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCAGTGGCTCGCCAGCACCCCCGGAGC	0.710													6	5	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21511088	21511089	+	Frame_Shift_Ins	INS	-	-	G	rs1154233	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr18:21511088_21511089insG	ENST00000313654.9	+	65	8740_8741	c.8499_8500insG	c.(8497-8502)gggcccfs	p.P2834fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.P2778fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.P1169fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.P1225fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2834	Laminin G-like 3.		S -> G (in dbSNP:rs1154233).		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)	GCGATAGCGGCAGCCCAATTTT	0.411													8	191	---	---	---	---					
ZNF524	147807	broad.mit.edu	37	19	56113567	56113568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr19:56113567_56113568insC	ENST00000591046.1	+	1	323_324	c.89_90insC	c.(88-90)gcgfs	p.A30fs	ZNF524_ENST00000301073.3_Frame_Shift_Ins_p.A30fs			Q96C55	ZN524_HUMAN	zinc finger protein 524	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTTCCCCGGGGCCGCCGAGGCC	0.683													7	55	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	cebe8f62-3438-4364-8b1d-730df24ba748	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687													77	166	---	---	---	---					
NOC2L	26155	broad.mit.edu	37	1	880150	880151	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:880150_880151insC	ENST00000327044.6	-	19	2222_2223	c.2173_2174insG	c.(2173-2175)cccfs	p.P725fs		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	725	Asp/Glu-rich (acidic).					nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCCCAGGGGCCAGCCCCGCC	0.614													7	25	---	---	---	---					
UBR4	23352	broad.mit.edu	37	1	19408294	19408295	+	Frame_Shift_Ins	INS	-	-	C	rs75559748	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:19408294_19408295insC	ENST00000375225.3	-	1	439_440	c.6_7insG	c.(4-9)ggcaggfs	p.R3fs	UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000429347.2_Intron			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	0					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCTTCCCTGGCCCCATGTCTA	0.545													5	4	---	---	---	---					
AHDC1	27245	broad.mit.edu	37	1	27874007	27874008	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:27874007_27874008insC	ENST00000374011.2	-	6	5587_5588	c.4619_4620insG	c.(4618-4620)tccfs	p.S1540fs	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1540							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAAGGAGTGGGCAGCCATAGCC	0.693													15	55	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145116193	145116193	+	RNA	DEL	G	G	-	rs66989703		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr1:145116193delG	ENST00000453618.1	+	0	1279							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCACTGGCTGGGGCATTCTC	0.428													4	2	---	---	---	---					
PRR21	643905	broad.mit.edu	37	2	240982117	240982144	+	Frame_Shift_Del	DEL	GTGGGTGAAGAGGCATGGATGAAGGACT	GTGGGTGAAGAGGCATGGATGAAGGACT	-	rs79839275	byFrequency	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT	ENST00000408934.1	-	1	255_282	c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC	c.(256-285)ggfs	p.SPSSMPLHPR86fs		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	86	Pro-rich.							p.S88L(2)|p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG	0.618													26	18	---	---	---	---					
FGD5	152273	broad.mit.edu	37	3	14861950	14861951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:14861950_14861951insC	ENST00000285046.5	+	1	1482_1483	c.1372_1373insC	c.(1372-1374)gaafs	p.E458fs	FGD5_ENST00000543601.1_Frame_Shift_Ins_p.E217fs	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	458					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGTTATGGCTCGAAAGAAGAA	0.653													8	44	---	---	---	---					
RTP4	64108	broad.mit.edu	37	3	187089105	187089106	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr3:187089105_187089106delTG	ENST00000259030.2	+	2	795_796	c.685_686delTG	c.(685-687)tfs	p.C229fs		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	229					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACTGAACATCTGTGTCTTTATT	0.421													62	63	---	---	---	---					
EIF3B	8662	broad.mit.edu	37	7	2416669	2416670	+	Frame_Shift_Ins	INS	-	-	G	rs149919744	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:2416669_2416670insG	ENST00000360876.4	+	15	2169_2170	c.2113_2114insG	c.(2113-2115)gccfs	p.A705fs	EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	705					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GCTGCTGTGGCGGCCCCGGCCT	0.634													18	94	---	---	---	---					
NOD1	10392	broad.mit.edu	37	7	30494800	30494801	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:30494800_30494801insA	ENST00000222823.4	-	5	853_854	c.328_329insT	c.(328-330)cccfs	p.P110fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	110					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGGAAGGGGAGAAGCCGATC	0.614													25	140	---	---	---	---					
AGFG2	3268	broad.mit.edu	37	7	100159920	100159921	+	Frame_Shift_Ins	INS	-	-	C	rs34537355		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr7:100159920_100159921insC	ENST00000300176.4	+	7	1038_1039	c.916_917insC	c.(916-918)accfs	p.T306fs	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	306					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTCCCCTGGCACCCGCCAGT	0.639													14	124	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													3	6	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													8	32	---	---	---	---					
CTSV	1515	broad.mit.edu	37	9	99797015	99797016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:99797015_99797016insG	ENST00000259470.5	-	7	1146_1147	c.897_898insC	c.(895-900)gtaaaafs	p.VK299fs	CTSV_ENST00000538255.1_Frame_Shift_Ins_p.VK299fs	NM_001333.3	NP_001324.2			cathepsin V																		TACCTGTTTTTGACGAGCCAAT	0.381													7	179	---	---	---	---					
IER5L	389792	broad.mit.edu	37	9	131939365	131939365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr9:131939365delC	ENST00000372491.2	-	1	1175	c.967delG	c.(967-969)ccfs	p.A323fs	RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	323													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		gggggctcggcccccagcccg	0.721													16	15	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)caaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													9	252	---	---	---	---					
FRG2B	441581	broad.mit.edu	37	10	135438960	135438960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr10:135438960delC	ENST00000443774.1	-	4	532	c.483delG	c.(481-483)agfs	p.R161fs	FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	160						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGCCCGAGACCTATGCCGCT	0.557													7	417	---	---	---	---					
KRTAP5-2	440021	broad.mit.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggt>gg	p.GSKGGCGSCGG93del	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657													19	211	---	---	---	---					
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctfs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	141						intracellular	zinc ion binding										AGGAGCTCCTAAAAAAAATGC	0.403													19	65	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49431260	49431264	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:49431260_49431264delCTGGG	ENST00000301067.7	-	34	9874_9878	c.9875_9879delCCCAG	c.(9874-9879)gfs	p.AQ3292fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAGACATGGCCTGGGCAGGGCCTGG	0.610													6	4	---	---	---	---					
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)del	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458													8	320	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													8	31	---	---	---	---					
PARP2	10038	broad.mit.edu	37	14	20825824	20825825	+	In_Frame_Ins	INS	-	-	GCG			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:20825824_20825825insGCG	ENST00000250416.5	+	16	1647_1648	c.1620_1621insGCG	c.(1618-1623)cccaag>ccGCGcaag	p.540_541PK>PRK	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	540	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CATTAGGACCAGCAAGTGACAC	0.416								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					44	128	---	---	---	---					
MRPL52	122704	broad.mit.edu	37	14	23299408	23299409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:23299408_23299409insG	ENST00000355151.5	+	3	132_133	c.102_103insG	c.(100-105)gcccaafs	p.Q35fs	MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs	NM_178336.2|NM_180982.2|NM_181306.2	NP_848026.1|NP_851313.1|NP_851823.1	Q86TS9	RM52_HUMAN	mitochondrial ribosomal protein L52	35					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome					all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGGACTGGCTGCCAACCCCTC	0.594													7	183	---	---	---	---					
SNHG10	283596	broad.mit.edu	37	14	95999677	95999677	+	RNA	DEL	A	A	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr14:95999677delA	ENST00000500370.2	-	0	766				SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA																							CTCAAAGTTTAAAAAAAAAAA	0.353													8	197	---	---	---	---					
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402					NR_026859.1																						TGCCTCAAAAGTTTTTTTTTTT	0.297													10	39	---	---	---	---					
ADAMTS7	11173	broad.mit.edu	37	15	79058941	79058943	+	In_Frame_Del	DEL	CGC	CGC	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr15:79058941_79058943delCGC	ENST00000388820.4	-	19	3520_3522	c.3310_3312delGCG	c.(3310-3312)del	p.A1104del		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCGTGGAGGGCGCAGCAGGATGG	0.680													4	8	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	5	---	---	---	---					
COQ9	57017	broad.mit.edu	37	16	57486732	57486734	+	In_Frame_Del	DEL	GAG	GAG	-	rs149029279		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr16:57486732_57486734delGAG	ENST00000262507.6	+	3	331_333	c.262_264delGAG	c.(262-264)del	p.E91del	COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	91					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CCAGGGCGGCGAGGAGGAGGAGG	0.576													7	459	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056587	56056589	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr17:56056587_56056589delTGT	ENST00000584396.1	-	5	1123_1125	c.1035_1037delACA	c.(1033-1038)cat>ca	p.QH345del	VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	354	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCTTGTCACAtgttgttgttgtt	0.473													7	285	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													12	19	---	---	---	---					
GNAZ	2781	broad.mit.edu	37	22	23438215	23438215	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chr22:23438215delG	ENST00000248996.4	+	2	999	c.333delG	c.(331-333)acfs	p.T111fs	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	111						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TTGCGCTGACGGGCCCCGCTG	0.687													77	166	---	---	---	---					
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-CV-5436-01A-01D-1512-08	TCGA-CV-5436-11A-01D-1512-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34dc613e-e4b4-4897-ac4b-13ff46e46d7e	fc3c7836-b5b2-453e-880f-5dee65b9f104	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	63	---	---	---	---					
