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
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:7578457C>A	ENST00000420246.2	-	5	605	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000269305.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627000		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)			28	49					8.88839e-20	1.02165e-19	1	1	0
SOWAHD	347454	broad.mit.edu	37	X	118893114	118893114	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:118893114G>A	ENST00000343905.3	+	1	539	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	162																	CGGGCGCCACGAGGAGCTCAT	0.716000													3	7					0	0	1	0	0
HBP1	26959	broad.mit.edu	37	7	106826320	106826320	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:106826320C>T	ENST00000222574.4	+	4	659	c.473C>T	c.(472-474)tCt>tTt	p.S158F	HBP1_ENST00000485846.1_Missense_Mutation_p.S158F|HBP1_ENST00000468410.1_Missense_Mutation_p.S158F	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	158	Poly-Ser.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTGTCCTCTTCTTCGAAGAGT	0.413000													11	104					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69737350	69737350	+	Silent	SNP	C	C	T	rs35621443	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:69737350C>T	ENST00000260363.4	+	19	2718	c.2601C>T	c.(2599-2601)tcC>tcT	p.S867S	KIF23_ENST00000395392.2_Silent_p.S860S|KIF23_ENST00000558585.1_Silent_p.S580S|KIF23_ENST00000352331.4_Silent_p.S763S|KIF23_ENST00000559279.1_Silent_p.S763S|KIF23_ENST00000537891.1_Silent_p.S580S	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	867					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AACTAGCCTCCGATGGGGAGA	0.383000													4	66					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229446	140229446	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140229446G>A	ENST00000378122.3	+	1	2090	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A456T|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGCGTTCGCGCAGTCCGA	0.672000													16	127					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	rs150991757	byFrequency	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:9356398G>A	ENST00000261336.2	-	2	261	c.233C>T	c.(232-234)gCg>gTg	p.A78V		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCTTCTCCGCCACCAGGTC	0.512000													11	75					0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105815542	105815542	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:105815542T>C	ENST00000353479.5	-	18	1975	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.N562S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	562	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCTCTCACCATTTTCCTGTTC	0.562000													6	41					0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791755	110791755	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:110791755G>T	ENST00000327908.3	+	4	2065	c.1301G>T	c.(1300-1302)tGg>tTg	p.W434L	LRIT3_ENST00000409621.2_Missense_Mutation_p.W434L|LRIT3_ENST00000594814.1_Missense_Mutation_p.W617L|LRIT3_ENST00000379920.3_Missense_Mutation_p.W572L			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	572						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GAACCTTTTTGGGAAGATGAT	0.428000													4	42					0.00909568	0.0095744	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110830547	110830547	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:110830547G>C	ENST00000375820.4	-	32	2611	c.2490C>G	c.(2488-2490)ttC>ttG	p.F830L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	830	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGAATCCGGGGAAACCCTTCT	0.517000													11	92					0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19425376	19425376	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:19425376A>C	ENST00000338883.4	-	13	1773	c.1774T>G	c.(1774-1776)Tgt>Ggt	p.C592G	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.C27G|MAP3K15_ENST00000469203.2_Missense_Mutation_p.C424G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	592							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TAAAGAAAACAACACCTTTCA	0.338000													6	27					0	0	1	0	0
AMELX	265	broad.mit.edu	37	X	11316948	11316948	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:11316948C>T	ENST00000380712.3	+	6	535	c.467C>T	c.(466-468)cCc>cTc	p.P156L	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P142L|AMELX_ENST00000348912.4_Missense_Mutation_p.P126L	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	142					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCCATGCAGCCCCAGCCACCT	0.657000													7	54					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	338134	338134	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:338134C>G	ENST00000262320.3	-	11	2948	c.2577G>C	c.(2575-2577)gaG>gaC	p.E859D	AXIN1_ENST00000354866.3_Missense_Mutation_p.E823D	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	859	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGTCCACCTTCTCCACTTTGC	0.622000													8	145					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49070352	49070352	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr13:49070352G>A	ENST00000344532.3	-	14	1913	c.1490C>T	c.(1489-1491)tCg>tTg	p.S497L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.S223L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.S502L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	497	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CACCGCAGCCGAGAGCAGAGC	0.488000													5	48					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259428	47259428	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:47259428G>A	ENST00000256996.4	+	8	1259	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	DDB2_ENST00000378600.3_Missense_Mutation_p.R166Q|DDB2_ENST00000378603.3_Missense_Mutation_p.R291Q|DDB2_ENST00000378601.3_3'UTR	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	355					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGGCCGATACCCAGAT	0.498000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				15	61					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159522944	159522944	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:159522944C>T	ENST00000389757.3	+	16	2722	c.2597C>T	c.(2596-2598)gCg>gTg	p.A866V	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.A866V	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	866					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TATATCCGGGCGGCCGTCCGA	0.438000										HNSCC(62;0.18)			9	53					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559724	140559724	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140559724C>T	ENST00000239444.2	+	1	2354	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		703					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTCTTCCTCTTCTCGGTGC	0.677000													35	205					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005143	74005143	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:74005143G>C	ENST00000301607.3	-	22	4396	c.4143C>G	c.(4141-4143)gaC>gaG	p.D1381E	EVPL_ENST00000586740.1_Missense_Mutation_p.D1403E	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1381	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCAGCTTCGGGTCCTTCTGGG	0.687000													18	121					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123657466	123657466	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:123657466G>A	ENST00000422452.2	-	17	2844	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	TENM1_ENST00000371130.3_Silent_p.L927L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CGATGGCCACGAGGTCAAAGC	0.393000													4	29					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196711010	196711010	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:196711010G>T	ENST00000367429.4	+	19	3202	c.2962G>T	c.(2962-2964)Gat>Tat	p.D988Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	988	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGAAACAGATTGTCTCAG	0.343000													8	40					5.18039e-06	5.69274e-06	1	1	0
FRMPD4	9758	broad.mit.edu	37	X	12712510	12712510	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:12712510C>T	ENST00000380682.1	+	9	1376	c.870C>T	c.(868-870)gtC>gtT	p.V290V		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTAGCTTCGTCCCAAAAGATC	0.413000													12	41					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27064746	27064746	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:27064746G>A	ENST00000268766.6	+	6	915	c.881G>A	c.(880-882)cGc>cAc	p.R294H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	294						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCAGTGTCCGCTGCAGAGGT	0.597000													13	84					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137715387	137715387	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:137715387C>T	ENST00000314358.5	+	5	895	c.695C>T	c.(694-696)tCt>tTt	p.S232F		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	232					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATGGAGGTGTCTGTAACTGAG	0.468000													7	40					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361452	51361452	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:51361452G>A	ENST00000360617.3	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	KLK3_ENST00000595952.1_Missense_Mutation_p.R82H|KLK3_ENST00000597483.1_Missense_Mutation_p.R82H|KLK3_ENST00000326003.2_Missense_Mutation_p.R125H|KLK3_ENST00000593997.1_Missense_Mutation_p.R125H			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	125	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATGCTGCTCCGCCTGTCAGAG	0.627000													4	44					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156628	1156628	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:1156628C>T	ENST00000356191.2	+	10	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGGACTTCAACGGGATGCCCG	0.617000													8	80					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99696765	99696765	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:99696765C>G	ENST00000303887.5	-	5	1108	c.463G>C	c.(463-465)Gac>Cac	p.D155H	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.D155H	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	155					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCCACAGAGTCAGCCCGCACT	0.517000													5	80					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786270	82786270	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:82786270A>G	ENST00000265077.3	+	3	989	c.424A>G	c.(424-426)Acg>Gcg	p.T142A	VCAN_ENST00000513984.1_Missense_Mutation_p.T142A|VCAN_ENST00000502527.2_Missense_Mutation_p.T142A|VCAN_ENST00000512590.2_Missense_Mutation_p.T94A|VCAN_ENST00000343200.5_Missense_Mutation_p.T142A|VCAN_ENST00000342785.4_Missense_Mutation_p.T142A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	142	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACACAAGACACGGTGTCACT	0.493000													12	47					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130282214	130282214	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:130282214G>A	ENST00000358511.6	+	2	398	c.367G>A	c.(367-369)Gca>Aca	p.A123T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A123T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	123	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCTGCACCCGCAAATGGGAG	0.502000													4	36					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133846228	133846228	+	Missense_Mutation	SNP	G	G	C	rs143208937		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:133846228G>C	ENST00000355167.3	+	19	2272	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	EYA4_ENST00000452339.2_Missense_Mutation_p.R551P|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.R605P|EYA4_ENST00000430974.2_Missense_Mutation_p.R557P|EYA4_ENST00000531901.1_Intron|EYA4_ENST00000367895.5_Intron|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.R582P	NM_172105.3	NP_742103.1	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	605					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAGATGGCCGAGATGAGGAG	0.403000													6	46					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114269129	114269129	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:114269129G>A	ENST00000369604.1	-	6	882	c.399C>T	c.(397-399)tgC>tgT	p.C133C	PHTF1_ENST00000447664.2_Silent_p.C133C|PHTF1_ENST00000369600.1_Silent_p.C80C|PHTF1_ENST00000369596.2_Silent_p.C80C|PHTF1_ENST00000393357.2_Silent_p.C133C|PHTF1_ENST00000357783.2_Silent_p.C133C|PHTF1_ENST00000369598.1_Silent_p.C133C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	133						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGCATAAGGCACAAGGGTC	0.363000													3	32					0	0	1	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762279	37762279	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr17:37762279G>A	ENST00000302584.4	-	2	794	c.574C>T	c.(574-576)Ctg>Ttg	p.L192L		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	192					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CCCTTGCACAGAGTCTGCACG	0.627000													5	42					0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43668716	43668716	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43668716C>G	ENST00000564079.1	+	3	463	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.Q75E	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	75					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCATCCATCTCAACAGGGCCA	0.473000											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	60					0	0	1	0	0
NPPB	4879	broad.mit.edu	37	1	11918436	11918436	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:11918436C>A	ENST00000376468.3	-	2	320	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	75					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	TTCCAGACACCTGTGGGACGG	0.632000													5	50					0.014758	0.0153729	1	1	0
RANBP6	26953	broad.mit.edu	37	9	6014242	6014242	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:6014242G>A	ENST00000259569.5	-	1	1376	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	456					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCCATGGTACGTAACAGAGCT	0.403000													4	49					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381234	108381234	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:108381234T>A	ENST00000265843.4	-	6	5110	c.5000A>T	c.(4999-5001)aAg>aTg	p.K1667M	EXPH5_ENST00000525344.1_Missense_Mutation_p.K1660M|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1591M|EXPH5_ENST00000443411.1_Missense_Mutation_p.K1479M	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1667					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCGGATTTCTTCACATGCTT	0.488000													26	111					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32311168	32311168	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:32311168C>T	ENST00000302418.4	-	17	2389	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	644					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGTCAATGACTTGATTTTGG	0.353000			T	"""RET, ALK"""	NSCLC								4	42					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82922403	82922403	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr11:82922403G>A	ENST00000393389.3	+	5	1449	c.517G>A	c.(517-519)Ggc>Agc	p.G173S	ANKRD42_ENST00000526731.1_Missense_Mutation_p.G173S|ANKRD42_ENST00000528722.1_Missense_Mutation_p.G60S|ANKRD42_ENST00000260047.6_Missense_Mutation_p.G172S|ANKRD42_ENST00000393392.2_Missense_Mutation_p.G145S|ANKRD42_ENST00000533342.1_Missense_Mutation_p.G173S|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000531895.1_Missense_Mutation_p.G173S			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	145										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TGGGCGGCTTGGCTGCTTGCA	0.403000													4	52					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	40					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123344033	123344033	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:123344033G>A	ENST00000253083.4	+	23	2481	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	786	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGTCGACAAGGAGATGGCGGC	0.622000													10	48					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40650738	40650738	+	Splice_Site	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr21:40650738G>A	ENST00000342449.3	-	10	1012	c.932_splice	c.e10-1	p.P312_splice	BRWD1_ENST00000380800.3_Splice_Site_p.P312_splice|BRWD1_ENST00000333229.2_Splice_Site_p.P312_splice	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGGGACGTGGGCTTTAAAAG	0.308000													4	52					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27521506	27521506	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:27521506G>A	ENST00000296098.4	+	2	510	c.240G>A	c.(238-240)tcG>tcA	p.S80S	TRIM54_ENST00000380075.2_Silent_p.S80S	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	80					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCCATCGTGCAGGCATG	0.567000													5	45					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	93017372	93017372	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:93017372C>T	ENST00000523629.1	-	6	1166	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E249K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E211K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E201K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E238K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E201K|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.E201K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	238					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E238K(1)|p.E201K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCCGTTTTCGTTCACATCG	0.542000													9	131					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													6	40					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	1930368	1930368	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:1930368C>T	ENST00000380815.4	-	7	1009	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GMDS_ENST00000530927.1_Missense_Mutation_p.R217Q	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	247					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GCCCCAATCTCGTTTGGCATC	0.418000													8	56					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110491150	110491150	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:110491150G>C	ENST00000324068.1	-	11	1722	c.1555C>G	c.(1555-1557)Cag>Gag	p.Q519E	CAPN6_ENST00000541758.1_Missense_Mutation_p.Q264E	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	519	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAGTGATCTGAGTAACTACT	0.428000													17	121					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60890184	60890184	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr20:60890184C>T	ENST00000252999.3	-	59	8013	c.7947G>A	c.(7945-7947)caG>caA	p.Q2649Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2649	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCTGCAGCTGGGACTGCA	0.662000													5	25					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820734	43820734	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:43820734G>A	ENST00000382031.1	+	5	7808	c.7777G>A	c.(7777-7779)Gag>Aag	p.E2593K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E2355K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2355K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2355						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGTTCCCTCTGAGGATTGTGC	0.627000													6	49					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68419123	68419123	+	Splice_Site	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:68419123G>C	ENST00000297770.4	-	6	750	c.534_splice	c.e6-1	p.L179_splice	CPA6_ENST00000518549.1_Splice_Site_p.L179_splice|CPA6_ENST00000297769.4_Splice_Site_p.L31_splice	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	179					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CGTCTGCCCAGCTGAAAACAA	0.408000													5	49					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61336370	61336370	+	Silent	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:61336370C>G	ENST00000402291.1	+	16	1924	c.1683C>G	c.(1681-1683)acC>acG	p.T561T	KIAA1841_ENST00000356719.2_Silent_p.T561T|KIAA1841_ENST00000295031.5_Silent_p.T561T|KIAA1841_ENST00000453873.1_Silent_p.T561T	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	561										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AAGAATATACCACTGGATCTG	0.274000													4	65					0	0	1	0	0
GET4	51608	broad.mit.edu	37	7	927057	927057	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:927057G>A	ENST00000407192.1	+	3	2725	c.208G>A	c.(208-210)Gtg>Atg	p.V70M	GET4_ENST00000265857.3_Missense_Mutation_p.V123M			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	123					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCTGAGCGCGTGACCTTTGT	0.622000													21	73					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949108	27949108	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:27949108G>T	ENST00000379992.2	-	6	2011	c.1562C>A	c.(1561-1563)tCc>tAc	p.S521Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.S521Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	521						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGTCATTGGAGTCGGTCAT	0.463000													49	81					1.22102e-19	1.38752e-19	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088832	94088832	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:94088832G>T	ENST00000553484.1	+	31	5473	c.5319G>T	c.(5317-5319)caG>caT	p.Q1773H	UNC79_ENST00000256339.4_Missense_Mutation_p.Q1574H|UNC79_ENST00000555664.1_Missense_Mutation_p.Q1751H|UNC79_ENST00000393151.2_Missense_Mutation_p.Q1751H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1751						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCTCCTTCAGAAGTCGTTTG	0.577000													8	92					0.0477658	0.049243	1	1	0
YLPM1	56252	broad.mit.edu	37	14	75264903	75264903	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:75264903G>C	ENST00000325680.7	+	5	3027	c.2903G>C	c.(2902-2904)gGa>gCa	p.G968A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.G773A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	773	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ATGGAGGGAGGAACAGCAGTA	0.453000													4	63					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510180	71510180	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:71510180G>A	ENST00000396073.3	+	9	3318	c.3037G>A	c.(3037-3039)Gac>Aac	p.D1013N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1013					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAACTGTTGACCTTACTCC	0.418000													9	62					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77287021	77287021	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:77287021A>G	ENST00000341514.6	+	16	3390	c.3235A>G	c.(3235-3237)Act>Gct	p.T1079A	ATP7A_ENST00000350425.4_Missense_Mutation_p.T82A|ATP7A_ENST00000343533.5_Missense_Mutation_p.T1001A	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1079					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CATTGTGGGAACTGCTGAAAG	0.398000													23	144					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161480679	161480679	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:161480679G>A	ENST00000271450.6	+	5	713	c.675G>A	c.(673-675)gcG>gcA	p.A225A	FCGR2A_ENST00000367972.4_Silent_p.A224A|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225						integral to membrane|plasma membrane	IgG binding|receptor activity	p.A224A(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGGTCATTGCGACTGCTGTAG	0.502000													9	128					0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511238	75511238	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:75511238C>T	ENST00000006777.6	+	2	405	c.270C>T	c.(268-270)ttC>ttT	p.F90F	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	90						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTGGCAATTTCGAGAGAACCG	0.532000													12	141					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2786382	2786382	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr12:2786382C>A	ENST00000399655.1	+	40	5216	c.4951C>A	c.(4951-4953)Ctg>Atg	p.L1651M	CACNA1C_ENST00000399603.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.L1657M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.L1692M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.L1651M|CACNA1C_ENST00000347598.4_Missense_Mutation_p.L1699M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.L1670M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.L1676M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.L1679M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.L1668M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.L1671M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.L1659M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.L1670M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.L1651M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.L1651M	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1699					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGCTGTCTCTGCAGGTGAG	0.637000													3	23					1	1	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50960022	50960022	+	Silent	SNP	G	G	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:50960022G>T	ENST00000374103.4	-	6	685	c.600C>A	c.(598-600)acC>acA	p.T200T	OGDHL_ENST00000419399.1_Silent_p.T143T|OGDHL_ENST00000432695.1_5'UTR	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	200					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGGCAGTAGGTGTTCTGGG	0.552000													15	141					4.93089e-13	5.54033e-13	1	1	0
INSM2	84684	broad.mit.edu	37	14	36004851	36004851	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:36004851G>A	ENST00000307169.3	+	1	1604	c.1393G>A	c.(1393-1395)Ggt>Agt	p.G465S		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CTCCGAACGCGGTGCCCCACT	0.637000													12	71					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729567	18729567	+	Silent	SNP	C	C	T	rs75089468		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr8:18729567C>T	ENST00000440756.2	-	3	909	c.807G>A	c.(805-807)ttG>ttA	p.L269L	PSD3_ENST00000327040.8_Silent_p.L269L|PSD3_ENST00000523619.1_Silent_p.L204L			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	269					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCTGCTCTTTCAAGAAACCAA	0.582000													4	67					0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35562534	35562534	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:35562534G>A	ENST00000399742.2	-	5	652	c.582C>T	c.(580-582)ttC>ttT	p.F194F	FAM166B_ENST00000492890.1_Intron	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	194										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						AGCTGGAGCCGAAGAGGAAGC	0.627000													5	14					0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60907184	60907184	+	Silent	SNP	T	T	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:60907184T>C	ENST00000309157.4	-	2	249	c.180A>G	c.(178-180)caA>caG	p.Q60Q	RORA_ENST00000560004.1_Intron|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000261523.5_Intron|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000335670.6_Intron	NM_002943.3	NP_002934.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	63	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGTGCTCAAGTTGAGACCAGA	0.478000													3	32					0	0	1	0	0
ZNF589	51385	broad.mit.edu	37	3	48309526	48309526	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr3:48309526A>C	ENST00000354698.3	+	4	417	c.345A>C	c.(343-345)caA>caC	p.Q115H	ZNF589_ENST00000440261.2_Missense_Mutation_p.Q114H|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000412564.1_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	115					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGAAATCAACTCCACCCAG	0.507000													12	43					0	0	1	0	0
GMIP	51291	broad.mit.edu	37	19	19748784	19748784	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:19748784C>T	ENST00000203556.4	-	10	1009	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	GMIP_ENST00000445806.2_Missense_Mutation_p.R291Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R291Q	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	291					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CGACACGATTCGCTGCTTGGC	0.687000													5	33					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807521	18807521	+	Missense_Mutation	SNP	C	C	A	rs140809384	by1000genomes	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:18807521C>A	ENST00000400664.1	+	1	98	c.46C>A	c.(46-48)Cag>Aag	p.Q16K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	16						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGGATATGCAGCTGACCGG	0.597000													4	54					0.00909568	0.0095744	1	1	0
CHST15	51363	broad.mit.edu	37	10	125769719	125769719	+	Silent	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:125769719G>A	ENST00000346248.5	-	8	2274	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N	CHST15_ENST00000435907.1_Silent_p.N544N	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	544					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCAGCCTAGCGTTGAAGGGCC	0.622000													12	55					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707144	242707144	+	Silent	SNP	C	C	G			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:242707144C>G	ENST00000321264.4	+	10	1535	c.1326C>G	c.(1324-1326)ctC>ctG	p.L442L	D2HGDH_ENST00000403782.1_Silent_p.L308L|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	442					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACCTGCACCTCAATGTGACGG	0.697000													10	61					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36213897	36213897	+	Splice_Site	SNP	A	A	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:36213897A>T	ENST00000420124.1	+	6	2723	c.2722_splice	c.e6-1	p.D908_splice	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Splice_Site_p.D908_splice																							GCTGCAATAGATACATCATCG	0.607000													3	18					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768073	140768073	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:140768073T>C	ENST00000519479.1	+	1	622	c.622T>C	c.(622-624)Tac>Cac	p.Y208H	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGAAATCCTACCACTTGAC	0.433000													19	81					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771735	157771735	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:157771735G>A	ENST00000358292.3	-	5	907	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	FCRL1_ENST00000368176.3_Missense_Mutation_p.R286C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R286C|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	286	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCTCACTGCGCTGGGCCCCC	0.562000													14	50					0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52957298	52957298	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr6:52957298C>T	ENST00000244426.6	+	7	927	c.755C>T	c.(754-756)aCg>aTg	p.T252M	FBXO9_ENST00000323557.7_Missense_Mutation_p.T242M|FBXO9_ENST00000370939.3_Missense_Mutation_p.T208M	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	252						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GTTCCGTACACGTCCTGGAGA	0.418000													11	54					0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139092480	139092480	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:139092480C>T	ENST00000371746.3	-	2	332	c.214G>A	c.(214-216)Gag>Aag	p.E72K	LHX3_ENST00000371748.5_Missense_Mutation_p.E67K	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	67	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AAGCAGCGCTCGGCCAGTGGC	0.617000													6	56					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088895	94088895	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr14:94088895G>C	ENST00000553484.1	+	31	5536	c.5382G>C	c.(5380-5382)gaG>gaC	p.E1794D	UNC79_ENST00000256339.4_Missense_Mutation_p.E1595D|UNC79_ENST00000555664.1_Missense_Mutation_p.E1772D|UNC79_ENST00000393151.2_Missense_Mutation_p.E1772D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1772						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGAGGGGGAGAAGCCTGGGG	0.562000													7	69					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459324	92459324	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:92459324C>T	ENST00000318445.6	+	2	496	c.282C>T	c.(280-282)ctC>ctT	p.L94L	SLCO3A1_ENST00000424469.2_Silent_p.L94L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	94					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCTCATCCTCTTCGTGAGCT	0.677000													12	60					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74511429	74511429	+	Silent	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:74511429G>C	ENST00000422840.2	-	12	1829	c.1830C>G	c.(1828-1830)ctC>ctG	p.L610L	GLG1_ENST00000205061.5_Silent_p.L610L|GLG1_ENST00000447066.2_Silent_p.L599L	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	610						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTCCCGTGAGAGCTGCATGA	0.443000													7	36					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	351				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388000													3	15					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685383	248685383	+	Missense_Mutation	SNP	G	G	A	rs138211669		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:248685383G>A	ENST00000343414.4	+	1	468	c.436G>A	c.(436-438)Ggt>Agt	p.G146S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCTGGCCGGTGGAGCATG	0.567000													4	27					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67421524	67421524	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chrX:67421524C>A	ENST00000355520.5	-	11	1603	c.962G>T	c.(961-963)tGt>tTt	p.C321F	OPHN1_ENST00000540071.1_Missense_Mutation_p.C321F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	321	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCTTCTCACACAGTACTTCAG	0.423000													6	62					2.7689e-08	3.07655e-08	1	1	0
TANC1	85461	broad.mit.edu	37	2	160082198	160082198	+	Splice_Site	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:160082198G>A	ENST00000263635.6	+	24	4048		c.e24-1		TANC1_ENST00000454300.1_Splice_Site	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTGTTTTGCAGGAAATGCTGC	0.498000													4	23					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089526	43089526	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr10:43089526G>C	ENST00000359467.3	-	5	986	c.872C>G	c.(871-873)tCt>tGt	p.S291C	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATCATGTTTAGAAAGGGTGGA	0.398000													16	63					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127965882	127965882	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr7:127965882G>A	ENST00000223073.1	-	11	1306	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	RBM28_ENST00000415472.2_Missense_Mutation_p.P257S	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	398	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCATTCTCTGGAGAAGCAGCT	0.423000													3	24					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999603	72999603	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr18:72999603C>T	ENST00000322038.5	+	2	2690	c.2106C>T	c.(2104-2106)agC>agT	p.S702S	TSHZ1_ENST00000580243.1_Silent_p.S747S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	747						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCCGCTGAGCGCTTTGCAGT	0.572000													8	31					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805689	115805689	+	Silent	SNP	C	C	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr9:115805689C>T	ENST00000374227.3	-	4	1236	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K	ZFP37_ENST00000553380.1_Silent_p.K418K|ZFP37_ENST00000555206.1_Silent_p.K404K			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATTCATATGGCTTCTCACCTG	0.398000													4	60					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43970042	43970042	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:43970042G>A	ENST00000282406.4	+	22	3494	c.3384G>A	c.(3382-3384)atG>atA	p.M1128I		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1128	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCACTTCATGAATGGGATAT	0.413000													9	48					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410822	153410822	+	Splice_Site	SNP	C	C	A	rs10888561	by1000genomes	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:153410822C>A	ENST00000368725.2	-	2	16	c.16_splice	c.e2-1	p.G6_splice		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTTCAAAAAGCCTTCAGGAAA	0.408000													4	22					1	1	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16959732	16959733	+	RNA	INS	-	-	GGGCCTGCAGCA	rs12063740		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:16959732_16959733insGGGCCTGCAGCA	ENST00000412962.1	-	0	74																											CTCCTCCAGCTGGGCCTGCTTC	0.668													7	26	---	---	---	---					
SESN2	83667	broad.mit.edu	37	1	28598377	28598378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr1:28598377_28598378insT	ENST00000253063.3	+	3	670_671	c.349_350insT	c.(349-351)catfs	p.H117fs		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	117					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTACATTGCCATCATGGTGAGC	0.569													18	50	---	---	---	---					
DOK1	1796	broad.mit.edu	37	2	74783880	74783881	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr2:74783880_74783881insT	ENST00000233668.5	+	5	1754_1755	c.1085_1086insT	c.(1084-1086)tgafs	p.*362fs	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Frame_Shift_Ins_p.*223fs	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	362	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GATCCCATCTATGATGAACCTG	0.574													11	72	---	---	---	---					
RFC1	5981	broad.mit.edu	37	4	39314498	39314500	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:39314498_39314500delCTC	ENST00000381897.1	-	11	1388_1390	c.1255_1257delGAG	c.(1255-1257)del	p.E419del	RFC1_ENST00000349703.2_In_Frame_Del_p.E419del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	419	BRCT.				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCAATAGACTCCAGCACGCCT	0.409													21	88	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													11	14	---	---	---	---					
C1QTNF3	114899	broad.mit.edu	37	5	34033456	34033457	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr5:34033456_34033457insA	ENST00000382065.3	-	3	1228_1229	c.522_523insT	c.(520-525)cagcccfs	p.QP174fs	C1QTNF3_ENST00000231338.7_Frame_Shift_Ins_p.QP101fs	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	101	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CCTTTGGGGCCATGCTGCCCCC	0.569													7	75	---	---	---	---					
SCAPER	49855	broad.mit.edu	37	15	76958026	76958026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr15:76958026delT	ENST00000538941.2	-	21	2814	c.1875delA	c.(1873-1875)aafs	p.K625fs	SCAPER_ENST00000324767.7_Frame_Shift_Del_p.K871fs|SCAPER_ENST00000563290.1_Frame_Shift_Del_p.K871fs	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	870	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCTTTTTGGCTTTTTTTTTAT	0.338													2	4	---	---	---	---					
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014	by1000genomes	TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)ggg>gGGAgg	p.501_502insR	ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR			Q86UK7	ZN598_HUMAN	zinc finger protein 598	556						intracellular	zinc ion binding	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703													5	8	---	---	---	---					
C19orf35	374872	broad.mit.edu	37	19	2279061	2279061	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8634-01A-11D-2394-08	TCGA-HD-8634-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4991bb-1c29-4989-ba16-b36180121d29	b45db2b0-cae9-4399-9c1b-01f4e8b49de3	g.chr19:2279061delG	ENST00000342063.3	-	3	227	c.134delC	c.(133-135)ctfs	p.P45fs		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	45										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGACCCAGGGGTCCGGAG	0.687													2	4	---	---	---	---					
