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
SLC45A1	50651	broad.mit.edu	37	1	8395553	8395553	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:8395553C>T	uc001apb.3	+	4	1500	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	SLC45A1_uc001apc.3_Silent_p.S198S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	500					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCCAGCGAGCGCGCGG	0.647												
ST6GALNAC3	256435	broad.mit.edu	37	1	77094323	77094323	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:77094323A>T	uc001dhh.2	+	4	913	c.750A>T	c.(748-750)aaA>aaT	p.K250N	ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	250					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTATAGAAAAGTCCCCTACC	0.363												
HCN3	57657	broad.mit.edu	37	1	155254428	155254428	+	Silent	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:155254428C>G	uc001fjz.1	+	3	977	c.969C>G	c.(967-969)ccC>ccG	p.P323P	HCN3_uc010pfz.1_Intron	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	323						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCATGCCCGACGTCTGGC	0.597												
CD1B	910	broad.mit.edu	37	1	158300836	158300836	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:158300836G>A	uc001frx.3	-	1	186	c.78C>T	c.(76-78)acC>acT	p.T26T	CD1B_uc001frw.3_Silent_p.T26T|CD1B_uc010pic.1_Silent_p.T26T	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	26					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CATGAAAGGAGGTCGGCCCCT	0.458												
VSIG8	391123	broad.mit.edu	37	1	159827989	159827989	+	Nonsense_Mutation	SNP	G	G	C	rs138280068		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:159827989G>C	uc001fuh.3	-	2	457	c.321C>G	c.(319-321)taC>taG	p.Y107*	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	107	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGGAGGCATCGTACTGGCTTG	0.542												
ITLN2	142683	broad.mit.edu	37	1	160920979	160920979	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:160920979C>T	uc001fxd.3	-	3	353	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ITLN2_uc009wts.3_Missense_Mutation_p.E98K|ITLN2_uc010pju.2_Missense_Mutation_p.E16K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	99	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTCATTCTCGTGCACGCTG	0.582												
LAMC2	3918	broad.mit.edu	37	1	183207550	183207550	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:183207550C>T	uc001gqa.2	+	18	3177	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	LAMC2_uc001gpz.4_Missense_Mutation_p.L955F|LAMC2_uc010poa.2_Missense_Mutation_p.L655F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	955	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCTTAAAAACCTCAGAGGTTA	0.413												
ITGA8	8516	broad.mit.edu	37	10	15590502	15590502	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:15590502G>A	uc001ioc.1	-	26	2832	c.2832C>T	c.(2830-2832)agC>agT	p.S944S	ITGA8_uc010qcb.1_Silent_p.S929S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	944					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGGACTGCGCTTTCTCCTC	0.483												
PLCE1	51196	broad.mit.edu	37	10	95791394	95791394	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:95791394G>A	uc001kjk.3	+	1	1225	c.591G>A	c.(589-591)atG>atA	p.M197I	PLCE1_uc010qnx.2_Missense_Mutation_p.M197I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	197					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGAAGAATGTCAGACACTT	0.408												
KIAA1598	57698	broad.mit.edu	37	10	118689505	118689505	+	Missense_Mutation	SNP	T	T	A	rs145640256		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:118689505T>A	uc021pzk.1	-	9	1365	c.867A>T	c.(865-867)gaA>gaT	p.E289D	KIAA1598_uc009xyw.3_Missense_Mutation_p.E289D|KIAA1598_uc001lcz.4_Missense_Mutation_p.E289D|KIAA1598_uc010qso.2_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.4_Missense_Mutation_p.E259D	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	289					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCTTCTAATTCTTTGACCT	0.308												
OR5D16	390144	broad.mit.edu	37	11	55606593	55606593	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr11:55606593T>A	uc010rio.2	+	0	366	c.366T>A	c.(364-366)taT>taA	p.Y122*		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGGCCTATGACCACTTTG	0.433												
LRRIQ1	84125	broad.mit.edu	37	12	85466877	85466877	+	Splice_Site	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:85466877G>T	uc001tac.3	+	11	2998	c.2887_splice	c.e11+1	p.C963_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.C841_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	963										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTGGAATTGTAAGttgtgt	0.358												
NOS1	4842	broad.mit.edu	37	12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:117723943C>T	uc001twn.2	-	5	1967	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NOS1_uc021ren.1_Missense_Mutation_p.R83H|NOS1_uc021reo.1_Missense_Mutation_p.R83H|NOS1_uc001twm.2_Missense_Mutation_p.R419H	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCACACAGCGCGAGGCATT	0.557												
ACADS	35	broad.mit.edu	37	12	121164991	121164991	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:121164991A>G	uc001tza.4	+	2	328	c.210_splice	c.e2+1	p.Q70_splice	ACADS_uc010szl.1_Splice_Site_p.Q70_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	70						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAGCGGCTCAGGTGAGAGTG	0.567												
RB1	5925	broad.mit.edu	37	13	49039379	49039379	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:49039379C>T	uc001vcb.3	+	22	2530	c.2364C>T	c.(2362-2364)agC>agT	p.S788S		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	788	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTCGAAGCCCTTACAAGT	0.403		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
BORA	79866	broad.mit.edu	37	13	73321201	73321201	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:73321201A>G	uc010aen.1	+	9	1806	c.1659A>G	c.(1657-1659)tcA>tcG	p.S553S	BORA_uc010thq.1_Silent_p.S253S|BORA_uc001viv.1_Silent_p.S478S|BORA_uc010thr.1_Silent_p.S408S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	Homo sapiens bora, aurora kinase A activator (BORA), mRNA.	478					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										TGTGCATGTCACCTCTTGCTG	0.413												
PYGO1	26108	broad.mit.edu	37	15	55838924	55838927	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr15:55838924_55838927delTGAC	uc002adf.1	-	2	554_557	c.554_557delGTCA	c.(553-558)agtcaafs	p.S185fs	PYGO1_uc010bfl.1_Frame_Shift_Del_p.S185fs	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	185	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGAGGAATTTGACTGAAATTTTC	0.333												
MAPK3	5595	broad.mit.edu	37	16	30128054	30128054	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:30128054G>A	uc002dws.3	-	7	1175	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.R245W|MAPK3_uc002dwv.4_Missense_Mutation_p.R315W|MAPK3_uc002dwt.3_3'UTR	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	359					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.R359W(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TCCTTCAGCCGCTCCTTAGGT	0.642												
SLC12A3	6559	broad.mit.edu	37	16	56913524	56913524	+	Missense_Mutation	SNP	C	C	T	rs139743444	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:56913524C>T	uc002ekd.4	+	10	1435	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A468V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	469					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCTCCTCTGCCCTGGCCTGC	0.632												
C17orf85	55421	broad.mit.edu	37	17	3721586	3721586	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:3721586G>A	uc010ckl.1	-	9	1304	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	427							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTCCACTTCGTCAGCATACA	0.328												
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7577551C>T	uc002gim.2	-	6	924	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.3_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(82)|p.G244S(75)|p.G244D(42)|p.G244V(14)|p.G244G(13)|p.M243L(10)|p.G244R(10)|p.G244fs*3(9)|p.G244A(9)|p.0?(8)|p.M243I(7)|p.M243T(5)|p.?(5)|p.G151C(4)|p.G244fs*4(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151R(1)|p.G151S(1)|p.G151fs*4(1)|p.G244_M246>V(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.G244E(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)		
TP53	7157	broad.mit.edu	37	17	7578464	7578464	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578464G>A	uc002gim.2	-	4	660	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.3_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.2_Missense_Mutation_p.R117C	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (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 -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(24)|p.R156fs*14(20)|p.T155N(20)|p.T155P(16)|p.T155I(12)|p.R156H(10)|p.0?(8)|p.T155A(8)|p.R156S(6)|p.R156G(6)|p.?(5)|p.R156fs*25(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.R156C(4)|p.R156R(3)|p.R156L(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.G154fs*14(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.T155S(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(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)		GCGCGGACGCGGGTGCCGGGC	0.612		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)		
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)		
ALOX15B	247	broad.mit.edu	37	17	7942479	7942479	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7942479C>T	uc002gju.3	+	0	122	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ALOX15B_uc002gjv.3_Silent_p.A2A|ALOX15B_uc002gjw.3_Silent_p.A2A|ALOX15B_uc010vun.2_Silent_p.A2A|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	2	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCATGGCCGAGTTCAGGG	0.652												
UBC	7316	broad.mit.edu	37	17	21731124	21731124	+	Silent	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:21731124C>A	uc002gyy.3	+	1	551	c.426C>A	c.(424-426)acC>acA	p.T142T				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	294	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAGAGTCGACCCTGCATCTGG	0.567												
BPTF	2186	broad.mit.edu	37	17	65924656	65924656	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:65924656A>G	uc002jgf.3	+	15	5998	c.5937A>G	c.(5935-5937)caA>caG	p.Q1979Q	BPTF_uc002jge.3_Silent_p.Q2105Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2105					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAACATTCCAACAAAACAAGA	0.393												
CATSPERD	257062	broad.mit.edu	37	19	5739352	5739352	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:5739352G>C	uc002mda.3	+	6	536	c.475G>C	c.(475-477)Gtt>Ctt	p.V159L	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	159						integral to membrane											CAGTAATTTGGTTTTTGCATA	0.338												
MUC16	94025	broad.mit.edu	37	19	9049260	9049260	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:9049260G>A	uc002mkp.3	-	4	32575	c.32371C>T	c.(32371-32373)Cgg>Tgg	p.R10791W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10793	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCACCAACCGTGATACAGCA	0.483												
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:15164396G>T	uc010dzv.2	+	2	343	c.131G>T	c.(130-132)cGg>cTg	p.R44L		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R44Q(2)|p.R44W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527												
PPFIA3	8541	broad.mit.edu	37	19	49651354	49651354	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:49651354C>T	uc002pmr.3	+	23	3182	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.G809G|PPFIA3_uc002pmt.3_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	950						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGCATATGGCGACATGAACC	0.617												
KLF11	8462	broad.mit.edu	37	2	10188462	10188462	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:10188462C>T	uc002raf.1	+	2	1160	c.998C>T	c.(997-999)gCt>gTt	p.A333V	KLF11_uc021vdq.1_Missense_Mutation_p.A316V|KLF11_uc010yjc.2_Missense_Mutation_p.A316V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	333					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGGGACCTGCTGTGCCTCAG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ACTG2	72	broad.mit.edu	37	2	74140711	74140711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:74140711G>A	uc002sjw.3	+	5	673	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ACTG2_uc010yrn.2_Missense_Mutation_p.R141H|ACTG2_uc010fey.3_Missense_Mutation_p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	184					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTGGCTGGCCGTGACCTCACG	0.552												
VIL1	7429	broad.mit.edu	37	2	219301877	219301877	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:219301877G>A	uc002vib.3	+	15	2024	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	VIL1_uc010zke.2_Missense_Mutation_p.E357K|VIL1_uc002via.3_Missense_Mutation_p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	668	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCAACGAGGAGGAGAA	0.577												
PDYN	5173	broad.mit.edu	37	20	1961151	1961151	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:1961151C>T	uc010gaj.3	-	2	825	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G195R|PDYN_uc021vzt.1_Missense_Mutation_p.G195R|PDYN_uc021vzu.1_Missense_Mutation_p.G195R|PDYN_uc002wfv.3_Missense_Mutation_p.G195R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTATCCCCGTCCCCCTCC	0.597												
RALGAPA2	57186	broad.mit.edu	37	20	20493649	20493649	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:20493649G>C	uc002wrz.3	-	31	4507	c.4364C>G	c.(4363-4365)tCt>tGt	p.S1455C	RALGAPA2_uc002wry.3_Missense_Mutation_p.S1070C|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1455					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGAGAGAGAGCCCACTGG	0.478												
RALGAPB	57148	broad.mit.edu	37	20	37182634	37182634	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:37182634G>A	uc002xiw.3	+	21	3544	c.3287G>A	c.(3286-3288)tGc>tAc	p.C1096Y	RALGAPB_uc002xix.3_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.C874Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1096					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTACGGATTGCAAGCCCCCG	0.478												
LAMA5	3911	broad.mit.edu	37	20	60911477	60911477	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:60911477C>T	uc002ycq.3	-	17	2309	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T	LAMA5_uc021wfw.1_Missense_Mutation_p.A748T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	748	Laminin EGF-like 9.				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)	TCCACGTGAGCCCGGCACATA	0.642												
APOBEC3F	200316	broad.mit.edu	37	22	39448100	39448100	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr22:39448100C>A	uc021wpr.1	+						APOBEC3F_uc003aww.3_Missense_Mutation_p.H249N	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.						base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GACCCATTGTCATGCAGAAAG	0.572												
RPL14	9045	broad.mit.edu	37	3	40499407	40499407	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:40499407C>T	uc003ckg.3	+	1	81	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RPL14_uc003ckh.3_Silent_p.G10G	NM_003973	NP_003964	P50914	RL14_HUMAN	Homo sapiens ribosomal protein L14 (RPL14), transcript variant 2, mRNA.	10					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGGTTGGCCGGGTGGCCT	0.443												
CDCP1	64866	broad.mit.edu	37	3	45127459	45127459	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:45127459C>T	uc003com.3	-	8	2317	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	728						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGTCATTGTCCTTTCGCCCT	0.502												
SLC15A2	6565	broad.mit.edu	37	3	121641692	121641692	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121641692C>T	uc003eep.2	+	8	1004	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	284					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTAGACTGGGCGGCTGAGAAA	0.433												
ILDR1	286676	broad.mit.edu	37	3	121712145	121712145	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121712145T>G	uc003ees.3	-	6	1654	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ILDR1_uc003eeq.3_Missense_Mutation_p.D452A|ILDR1_uc003eer.3_Missense_Mutation_p.D440A|ILDR1_uc010hrg.3_Missense_Mutation_p.D395A	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	484						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTCTCCTTGTCCTCTTCAGA	0.677												
PIK3CA	5290	broad.mit.edu	37	3	178938803	178938803	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:178938803delA	uc003fjk.3	+	13	2202	c.2045delA	c.(2044-2046)cagfs	p.Q682fs		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	682	PI3K helical.				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			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)			ACAGTTAGCCAGAGGTTTGGC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:8307709A>G	uc003gla.3	+	8	1415	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	403	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647												
N4BP2	55728	broad.mit.edu	37	4	40127847	40127847	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:40127847C>T	uc003guy.4	+	11	4762	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F	N4BP2_uc010ifq.3_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.3_Missense_Mutation_p.S1395F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1475						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAACAGCATCTGAAATGCTA	0.338												
NAA11	84779	broad.mit.edu	37	4	80246554	80246554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:80246554G>A	uc003hlt.4	-	0	618	c.478C>T	c.(478-480)Cga>Tga	p.R160*	NAA11_uc021xpl.1_Nonsense_Mutation_p.R160*	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	160						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R159K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTGTCGTCTCAGCTCA	0.517												
ANKRD50	57182	broad.mit.edu	37	4	125591834	125591834	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:125591834A>G	uc010inw.3	-	3	3636	c.2598T>C	c.(2596-2598)ctT>ctC	p.L866L	ANKRD50_uc011cgo.2_Silent_p.L687L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	866										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTGTTCAATAAGTGCTTCAC	0.393												
NEIL3	55247	broad.mit.edu	37	4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:178274739T>G	uc003iut.2	+	7	1434	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	NEIL3_uc010irs.3_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	439					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	Missense_Mutation	SNP	C	C	T	rs111700178	by1000genomes	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:1593264C>T	uc010itg.1	-	1	273	c.196G>A	c.(196-198)Gca>Aca	p.A66T	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		AGGGCACATGCCTGACCAAAG	0.557												
ATG12	9140	broad.mit.edu	37	5	115177234	115177234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:115177234G>A	uc003krh.3	-	0	315	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Nonsense_Mutation_p.Q53*	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	6					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AACACAGACTGCGGCTCCTCC	0.607												
PCDHB10	56126	broad.mit.edu	37	5	140573541	140573541	+	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:140573541C>T	uc003lix.3	+	0	1590	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	472	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S472S(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662												
ZUFSP	221302	broad.mit.edu	37	6	116987896	116987896	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:116987896G>T	uc003pxf.2	-	1	720	c.460C>A	c.(460-462)Cct>Act	p.P154T	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	154						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATTCAGGAGGACTGTAT	0.378												
LAMA2	3908	broad.mit.edu	37	6	129573419	129573419	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:129573419T>C	uc021zfb.1	+	13	2180	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S	LAMA2_uc003qbn.3_Missense_Mutation_p.F692S|LAMA2_uc003qbo.3_Missense_Mutation_p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	692	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATACAGCTTTGGGATGGAT	0.453												
PLXNA4	91584	broad.mit.edu	37	7	131982916	131982916	+	Silent	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr7:131982916G>T	uc003vra.4	-	3	1666	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	479	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGACTGGGCCGGGGTCCA	0.582												
DLGAP2	9228	broad.mit.edu	37	8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr8:1574988C>T	uc003wpl.3	+	3	1382	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	508					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617												
MPDZ	8777	broad.mit.edu	37	9	13162794	13162794	+	Silent	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr9:13162794T>C	uc010mia.1	-	22	3312	c.3255_splice	c.e22-1	p.K1085_splice	MPDZ_uc010mhx.3_Splice_Site|MPDZ_uc011lmm.2_Splice_Site|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Splice_Site_p.K1085_splice|MPDZ_uc011lmn.2_Splice_Site_p.K1085_splice|MPDZ_uc010mhy.3_Splice_Site_p.K1085_splice|MPDZ_uc003zlb.4_Splice_Site_p.K1085_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1085	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATAAGTAATTCTGGAACAAA	0.348												
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597												
VAMP7	6845	broad.mit.edu	37	X	155169439	155169439	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:155169439C>G	uc004fnr.3	+	6	754	c.576C>G	c.(574-576)atC>atG	p.I192M	VAMP7_uc011naa.2_Missense_Mutation_p.I153M|VAMP7_uc011nab.2_Missense_Mutation_p.I91M|VAMP7_uc004fnt.3_Missense_Mutation_p.I151M|VAMP7_uc004fns.3_Missense_Mutation_p.H170D|VAMP7_uc011nac.2_Missense_Mutation_p.I125M	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	192					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTATTATCATCATCATCG	0.333