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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLC47A1	55244	broad.mit.edu	37	17	19451346	19451346	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:19451346A>G	uc002gvx.3	+	3	441	c.355A>G	c.(355-357)Agt>Ggt	p.S119G	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.S119G|SLC47A1_uc010vyz.1_Missense_Mutation_p.S96G|SLC47A1_uc010cqp.1_Missense_Mutation_p.S119G|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	119						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CCTGCAGCGGAGTGCGCTCGT	0.612000														40			48		0	0	0.014410	0	0
SCAND3	114821	broad.mit.edu	37	6	28543371	28543371	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr6:28543371C>A	uc003nlo.3	-	2	1729	c.1111G>T	c.(1111-1113)Gtt>Ttt	p.V371F		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	371	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGAACTAACTTCCTTAATT	0.343000														122			55		1.39843e-22	1.71236e-22	0.014410	1	0
INTS5	80789	broad.mit.edu	37	11	62417117	62417117	+	Silent	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:62417117A>G	uc001nud.3	-	1	488	c.435T>C	c.(433-435)agT>agC	p.S145S		NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	145					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGGACCATGCACTAATCACAG	0.572000														60			38		0	0	0.023175	0	0
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	G	G	rs121912666		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:7578190T>G	uc002gim.2	-	5	853	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_uc002gig.1_Missense_Mutation_p.Y220S|TP53_uc002gih.3_Missense_Mutation_p.Y220S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88S|TP53_uc010cnf.1_Missense_Mutation_p.Y88S|TP53_uc002gii.1_Missense_Mutation_p.Y88S|TP53_uc010cni.1_Missense_Mutation_p.Y220S|TP53_uc010cnh.1_Missense_Mutation_p.Y220S|TP53_uc002gij.2_Missense_Mutation_p.Y220S|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127S|TP53_uc002gio.2_Missense_Mutation_p.Y88S|TP53_uc010vug.2_Missense_Mutation_p.Y181S|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557000		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)				45			7		0	0	0.004482	0	0
CYFIP2	26999	broad.mit.edu	37	5	156819902	156819902	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr5:156819902C>T	uc021ygm.1	+	30	3791	c.3653C>T	c.(3652-3654)gCc>gTc	p.A1218V	CYFIP2_uc011ddn.2_Missense_Mutation_p.A1193V|CYFIP2_uc011ddo.2_Missense_Mutation_p.A1023V|CYFIP2_uc021ygn.1_Missense_Mutation_p.A1218V|CYFIP2_uc021ygo.1_Missense_Mutation_p.A1218V|CYFIP2_uc003lwt.3_Missense_Mutation_p.A1122V|CYFIP2_uc011ddp.2_Missense_Mutation_p.A953V	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1244					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGTTTTTGCCATCCTGAAC	0.517000														104			4		0	0	0.009096	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102769233	102769233	+	Silent	SNP	T	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:102769233T>C	uc011klj.1	-	1	289	c.210A>G	c.(208-210)tcA>tcG	p.S70S	NAPEPLD_uc003vbd.2_5'UTR|NAPEPLD_uc003vbc.2_5'UTR|NAPEPLD_uc003vbe.2_Non-coding_Transcript|NAPEPLD_uc003vbf.3_5'UTR	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	0					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGTCCTTTGGTGAAGAACTAA	0.348000														78			59		0	0	0.014410	0	0
TBP	6908	broad.mit.edu	37	6	170871043	170871043	+	Silent	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr6:170871043G>A	uc003qxu.3	+	2	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_uc011ehf.2_Silent_p.Q53Q|TBP_uc003qxt.3_Silent_p.Q73Q|TBP_uc011ehg.1_Silent_p.Q73Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)|p.Q73Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562000														13			5		0	0	0.029380	0	0
PGR	5241	broad.mit.edu	37	11	100933334	100933334	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:100933334G>A	uc001pgh.2	-	3	2799	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	PGR_uc001pgg.2_Missense_Mutation_p.P67S|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	686	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTGATCAGTGGTGGAATCAAC	0.458000														221			5		0	0	0.021553	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183114	147183114	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:147183114T>G	uc003weu.2	+	10	2274	c.1758T>G	c.(1756-1758)agT>agG	p.S586R	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	586	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.S586R(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGGATACAGTGGGGCCACCT	0.468000										HNSCC(39;0.1)				76			6		0	0	0.016723	0	0
DDX53	168400	broad.mit.edu	37	X	23019108	23019108	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chrX:23019108G>A	uc004daj.3	+	0	1031	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	312	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGCTCTTCACGTGGAAGCTGA	0.408000														21			31		0	0	0.037714	0	0
ACOT7	11332	broad.mit.edu	37	1	6399500	6399500	+	Silent	SNP	G	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:6399500G>T	uc001ams.3	-	2	598	c.441C>A	c.(439-441)atC>atA	p.I147I	ACOT7_uc001amt.3_Silent_p.I137I|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Silent_p.I96I|ACOT7_uc001amr.3_Silent_p.I117I	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	147	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		TACCTGTGAGGATGTTTTCGG	0.597000														48			15		4.7546e-09	5.28289e-09	0.028581	1	0
INTS1	26173	broad.mit.edu	37	7	1535858	1535858	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:1535858T>C	uc003skn.2	-	11	1746	c.1645A>G	c.(1645-1647)Atg>Gtg	p.M549V	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	549					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCCAGCATCATGGACACGGCC	0.632000														82			27		0	0	0.034045	0	0
SMG5	23381	broad.mit.edu	37	1	156236156	156236156	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:156236156T>C	uc001foc.4	-	11	1420	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	424					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CACAGGTTCCTTGGACTCTGG	0.582000														48			28		0	0	0.030593	0	0
ZFAND2B	130617	broad.mit.edu	37	2	220072989	220072989	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:220072989T>G	uc002vka.3	+	4	618	c.446T>G	c.(445-447)aTc>aGc	p.I149S	ZFAND2B_uc010zkt.2_Missense_Mutation_p.I149S|ZFAND2B_uc010fwd.1_Missense_Mutation_p.I149S|ZFAND2B_uc002vjz.1_Missense_Mutation_p.I149S|ZFAND2B_uc002vkb.1_Missense_Mutation_p.I40S	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	149						endoplasmic reticulum	protein binding|zinc ion binding	p.I149T(2)|p.I149I(1)		endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCTGCCATCTCCAGAGCA	0.532000														26			16		0	0	0.033300	0	0
SSX2IP	117178	broad.mit.edu	37	1	85124036	85124036	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:85124036A>T	uc001dki.3	-	9	1369	c.1043T>A	c.(1042-1044)aTt>aAt	p.I348N	SSX2IP_uc001dkf.3_Missense_Mutation_p.I321N|SSX2IP_uc001dkh.3_Missense_Mutation_p.I348N|SSX2IP_uc010orz.2_Missense_Mutation_p.I321N|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.I321N|SSX2IP_uc001dkj.3_Missense_Mutation_p.I348N|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.I344N	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	348					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACTTTTCAAAATTCTCCACTG	0.408000														51			21		0	0	0.014323	0	0
OR4M1	441670	broad.mit.edu	37	14	20248681	20248681	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr14:20248681C>T	uc010tku.2	+	0	200	c.200C>T	c.(199-201)gCc>gTc	p.A67V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTAATCTGGCCCTCCTTGAT	0.418000														789			14		0	0	0.028581	0	0
PIK3CB	5291	broad.mit.edu	37	3	138409857	138409857	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:138409857A>G	uc011bmq.2	-	12	2021	c.2021T>C	c.(2020-2022)cTa>cCa	p.L674P	PIK3CB_uc011bmn.2_Missense_Mutation_p.L186P|PIK3CB_uc011bmo.2_Missense_Mutation_p.L120P|PIK3CB_uc011bmp.2_Missense_Mutation_p.L261P	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	674	PI3K helical.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATGCCAAAATAGAAACTGCCC	0.353000														163			53		0	0	0.014410	0	0
RBPJL	11317	broad.mit.edu	37	20	43940944	43940944	+	Silent	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr20:43940944C>T	uc002xns.3	+	5	600	c.528C>T	c.(526-528)cgC>cgT	p.R176R	RBPJL_uc002xnt.3_Silent_p.R176R	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	176					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				tggtgctgcgCGGGGGCCGGG	0.602000														25			12		0	0	0.016723	0	0
TOP2B	7155	broad.mit.edu	37	3	25651158	25651158	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:25651158A>C	uc003cdj.2	-	28	3860	c.3817T>G	c.(3817-3819)Ttc>Gtc	p.F1273V	TOP2B_uc011awm.1_Missense_Mutation_p.F130V	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	1278					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GCTCCACTGAATTCTTCATCA	0.393000														9			3		0	0	0.004672	0	0
LOC728323	728323	broad.mit.edu	37	2	243061143	243061143	+	RNA	SNP	A	G	G	rs117509304	by1000genomes	TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:243061143A>G	uc010zpd.1	+	3		c.381A>G			LOC728323_uc010zpe.1_Non-coding_Transcript|LOC728323_uc010zpf.1_Non-coding_Transcript|LOC728323_uc010zpg.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC728323 (LOC728323), non-coding RNA.																		CTTGGGAGAAACCTTTAATCG	0.358000														131			4		0	0	0.009096	0	0
ASB1	51665	broad.mit.edu	37	2	239344354	239344354	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:239344354G>A	uc002vyg.3	+	2	280	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	65					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TCCTGCAGCCGCATCAACGAG	0.652000														29			3		0	0	0.004672	0	0
AGPS	8540	broad.mit.edu	37	2	178301498	178301498	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:178301498T>G	uc002ull.2	+	3	495	c.448T>G	c.(448-450)Tta>Gta	p.L150V	AGPS_uc010zfb.1_Missense_Mutation_p.L60V	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	150					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.S149S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTAGGCATCCTTAAATCCTAG	0.303000														96			7		0	0	0.029380	0	0
CHAD	1101	broad.mit.edu	37	17	48546019	48546019	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:48546019C>A	uc010dbr.3	-	0	209	c.156G>T	c.(154-156)aaG>aaT	p.K52N	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.K52N|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	52	LRRNT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCAGCTTGGTCTTCTCTGACA	0.622000														58			14		6.72482e-11	7.61301e-11	0.024245	1	0
MGA	23269	broad.mit.edu	37	15	42005411	42005411	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr15:42005411T>A	uc010ucy.2	+	8	3328	c.3147T>A	c.(3145-3147)aaT>aaA	p.N1049K	MGA_uc001zog.1_Missense_Mutation_p.N1049K|MGA_uc010ucz.2_Missense_Mutation_p.N1049K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1049						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CCTGCAACAATGACTTCTGTC	0.463000														63			27		0	0	0.037714	0	0
PDE6B	5158	broad.mit.edu	37	4	619837	619837	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr4:619837A>C	uc003gap.3	+	0	475	c.422A>C	c.(421-423)cAc>cCc	p.H141P	PDE6B_uc003gao.4_Missense_Mutation_p.H141P	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	141	GAF 1.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTCGTGGGCCACGTGGCTCAG	0.642000														4			4		0	0	0.014758	0	0
ZW10	9183	broad.mit.edu	37	11	113628545	113628545	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:113628545G>A	uc001poe.3	-	6	861	c.764C>T	c.(763-765)cCg>cTg	p.P255L	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	255	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AGATGCCAGCGGCCTAAGGAT	0.403000														40			17		0	0	0.006122	0	0
BIRC6	57448	broad.mit.edu	37	2	32656054	32656054	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:32656054A>C	uc010ezu.3	+	11	3278	c.3144A>C	c.(3142-3144)gaA>gaC	p.E1048D		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1048					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTGGGTAGAAGTTCAACAAG	0.483000														39			19		0	0	0.007413	0	0
ARAP1	116985	broad.mit.edu	37	11	72423355	72423355	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr11:72423355A>G	uc001osu.3	-	6	1097	c.908T>C	c.(907-909)tTg>tCg	p.L303S	ARAP1_uc001osv.3_Missense_Mutation_p.L303S|ARAP1_uc001osr.3_Missense_Mutation_p.L63S|ARAP1_uc001oss.3_Missense_Mutation_p.L58S|ARAP1_uc009yth.3_Missense_Mutation_p.L58S|ARAP1_uc010rre.2_Missense_Mutation_p.L58S	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	303					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGGCAAGGACAAGCTCAGGCT	0.672000														16			5		0	0	0.014758	0	0
LILRB4	11006	broad.mit.edu	37	19	55175654	55175654	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr19:55175654A>C	uc002qgp.3	+	3	735	c.373A>C	c.(373-375)Acc>Ccc	p.T125P	LILRB4_uc002qgq.3_Missense_Mutation_p.T125P|LILRB4_uc010ers.1_Missense_Mutation_p.T38P|LILRB4_uc010ert.3_Missense_Mutation_p.T166P|LILRB4_uc010eru.3_Missense_Mutation_p.T154P	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	125	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAGTAAACCCACCCTTTCAGC	0.572000														98			6		0	0	0.006214	0	0
PMPCB	9512	broad.mit.edu	37	7	102952636	102952636	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr7:102952636C>T	uc003vbk.1	+	11	1497	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	PMPCB_uc003vbl.3_Intron|PMPCB_uc011kll.1_Intron	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	0					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTAATTAACTCTTCTTTTTAA	0.358000														97			32		0	0	0.013726	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:178098956A>C	uc002ulh.4	-	1	644	c.89T>G	c.(88-90)cTt>cGt	p.L30R	NFE2L2_uc002ulg.4_Missense_Mutation_p.L14R|NFE2L2_uc010zfa.2_Missense_Mutation_p.L14R|NFE2L2_uc002uli.4_Missense_Mutation_p.L14R|NFE2L2_uc010fra.3_Missense_Mutation_p.L14R|NFE2L2_uc010frb.3_Missense_Mutation_p.L14R	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D29H(11)|p.D29G(6)|p.L30F(5)|p.L30R(4)|p.L30H(2)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)				51			6		0	0	0.021553	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235670	102235670	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr13:102235670G>C	uc001vpb.3	+	5	1051	c.832G>C	c.(832-834)Gct>Cct	p.A278P	ITGBL1_uc010agb.3_Missense_Mutation_p.A229P|ITGBL1_uc001vpc.4_Missense_Mutation_p.A137P	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	278	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACTGTAGAGCTGTCTATGA	0.473000														145			70		0	0	0.014410	0	0
KIAA0146	23514	broad.mit.edu	37	8	48308957	48308957	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr8:48308957G>C	uc003xqd.3	+	5	609	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	KIAA0146_uc011lcz.2_Intron|KIAA0146_uc011lda.2_Intron|KIAA0146_uc011ldb.2_Missense_Mutation_p.E183Q|KIAA0146_uc010lxs.3_5'UTR|KIAA0146_uc011ldc.2_Missense_Mutation_p.E113Q|KIAA0146_uc011ldd.2_Missense_Mutation_p.E123Q|KIAA0146_uc003xqe.3_Intron|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Intron	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	183										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				AGAAATTTTAGAGTATTCATC	0.313000														37			17		0	0	0.007413	0	0
POMC	5443	broad.mit.edu	37	2	25387619	25387619	+	Missense_Mutation	SNP	C	T	T	rs146551109		TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:25387619C>T	uc002rfy.1	-	2	286	c.23G>A	c.(22-24)cGc>cAc	p.R8H	POMC_uc002rfz.1_Missense_Mutation_p.R8H|POMC_uc002rga.1_Missense_Mutation_p.R8H	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	8					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	p.R8H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCCCCCGAGCGGCTGCAGCA	0.612000														52			23		0	0	0.021523	0	0
DAAM1	23002	broad.mit.edu	37	14	59791109	59791109	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr14:59791109T>A	uc001xdz.1	+	7	1051	c.926T>A	c.(925-927)cTg>cAg	p.L309Q	DAAM1_uc001xea.1_Missense_Mutation_p.L309Q|DAAM1_uc001xeb.1_Missense_Mutation_p.L309Q	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	309	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TATGAATTTCTGATGTTAGGA	0.308000														64			27		0	0	0.010818	0	0
TOP3B	8940	broad.mit.edu	37	22	22327036	22327036	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr22:22327036G>T	uc002zvs.3	-	3	692	c.257C>A	c.(256-258)cCc>cAc	p.P86H	TOP3B_uc002zvt.4_Missense_Mutation_p.P86H|TOP3B_uc010gtl.3_Missense_Mutation_p.P86H	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	86	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTTCTCCGTGGGAGCTTGGCT	0.562000											OREG0026347	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			24		3.6726e-16	4.32071e-16	0.021523	1	0
AKAP6	9472	broad.mit.edu	37	14	33204952	33204952	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr14:33204952T>A	uc001wrq.3	+	10	3406	c.3236T>A	c.(3235-3237)cTg>cAg	p.L1079Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1079					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGTGGAAGCCTGGTAAGGCAG	0.488000														44			23		0	0	0.014323	0	0
SKA3	221150	broad.mit.edu	37	13	21732196	21732196	+	Silent	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr13:21732196A>G	uc001unt.3	-	6	1109	c.984T>C	c.(982-984)acT>acC	p.T328T	SKA3_uc001unu.3_Silent_p.T328T|SKA3_uc001unv.3_Silent_p.T246T	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	328					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AAACCAACGAAGTACGATCTT	0.333000														119			38		0	0	0.021022	0	0
C1orf86	199990	broad.mit.edu	37	1	2125303	2125303	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:2125303G>A	uc001aix.2	-	6	1005	c.232C>T	c.(232-234)Cca>Tca	p.P78S	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.P82L	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	122										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		AAAGGTCTTGGGTCCGACAGT	0.672000														77			3		0	0	0.004672	0	0
MYBPHL	343263	broad.mit.edu	37	1	109839700	109839700	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr1:109839700G>C	uc001dxk.1	-	3	592	c.542C>G	c.(541-543)aCg>aGg	p.T181R	MYBPHL_uc010ovh.1_Missense_Mutation_p.T158R|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	181	Fibronectin type-III.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTTCTGCACCGTGTATCCCAG	0.577000														103			51		0	0	0.014410	0	0
FER1L6	654463	broad.mit.edu	37	8	125074167	125074167	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr8:125074167T>A	uc003yqw.3	+	24	3428	c.3222T>A	c.(3220-3222)agT>agA	p.S1074R	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1074	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGGGAGGAGTACCCTTGTGG	0.542000														89			44		0	0	0.036044	0	0
CCDC58	131076	broad.mit.edu	37	3	122102042	122102042	+	Silent	SNP	A	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:122102042A>G	uc003eey.3	-	0	33	c.30T>C	c.(28-30)tgT>tgC	p.C10C	FAM162A_uc011bjq.1_5'Flank|FAM162A_uc003eez.3_5'Flank	NM_001017928	NP_001017928	Q4VC31	CCD58_HUMAN	Homo sapiens coiled-coil domain containing 58 (CCDC58), mRNA.	10										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		CGAACTCCTCACAGTTCACAC	0.602000														87			13		0	0	0.016723	0	0
CABIN1	23523	broad.mit.edu	37	22	24483456	24483456	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr22:24483456C>A	uc002zzi.1	+	22	3442	c.3315C>A	c.(3313-3315)gaC>gaA	p.D1105E	CABIN1_uc021wnc.1_Missense_Mutation_p.D1055E|CABIN1_uc002zzj.1_Missense_Mutation_p.D1055E|CABIN1_uc002zzl.2_Missense_Mutation_p.D1105E	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1105					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.Q1104fs*4(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCATTCAGGACAAGCTGAACT	0.547000														34			10		9.31168e-06	1.01582e-05	0.016723	1	0
C3orf23	285343	broad.mit.edu	37	3	44438258	44438258	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr3:44438258C>T	uc003cnd.4	+	7	1244	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	C3orf23_uc010him.3_Missense_Mutation_p.R273C|C3orf23_uc003cne.4_Missense_Mutation_p.R129C	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	273						mitochondrion		p.R273G(2)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		ATTTACAGACCGTTCTGGCAT	0.408000														58			47		0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977517	3977517	+	Silent	SNP	C	T	T			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr17:3977517C>T	uc002fxe.3	-	23	3676	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1204							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGTAAATCCAGCCCCCAAG	0.577000														318			6		0	0	0.021553	0	0
SSFA2	6744	broad.mit.edu	37	2	182786760	182786760	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr2:182786760G>C	uc002uoi.3	+	15	3618	c.3296G>C	c.(3295-3297)gGa>gCa	p.G1099A	SSFA2_uc002uoh.3_Missense_Mutation_p.G1099A|SSFA2_uc002uoj.3_Missense_Mutation_p.G1077A|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.G924A|SSFA2_uc002uol.3_Missense_Mutation_p.G946A|SSFA2_uc002uom.3_Missense_Mutation_p.G563A	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	1099						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ATTCCTCCTGGAGAAAGCTCA	0.438000														88			27		0	0	0.027356	0	0
VPS13C	54832	broad.mit.edu	37	15	62167108	62167108	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr15:62167108T>A	uc002agz.3	-	76	10472	c.10381A>T	c.(10381-10383)Att>Ttt	p.I3461F	VPS13C_uc002aha.3_Missense_Mutation_p.I3418F|VPS13C_uc002ahb.2_Missense_Mutation_p.I3461F|VPS13C_uc002ahc.2_Missense_Mutation_p.I3418F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3461					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTCACTCCAATCACTAACCCC	0.303000														78			41		0	0	0.014410	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655645	31655646	+	Frame_Shift_Ins	INS	-	G	G			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr6:31655645_31655646insG	uc003nvy.2	-	16	1481_1482	c.1402_1403insC	c.(1402-1404)cgafs	p.R468fs	ABHD16A_uc003nvx.2_Frame_Shift_Ins_p.R249fs|ABHD16A_uc011dny.2_Frame_Shift_Ins_p.R435fs|ABHD16A_uc010jtc.2_Frame_Shift_Ins_p.R249fs|ABHD16A_uc011dnz.2_Frame_Shift_Ins_p.R249fs	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	468						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CCTCACCACTCGAAGACCCTCC	0.594													---	95	---	---	21	---					
ZNF559	84527	broad.mit.edu	37	19	9452840	9452840	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr19:9452840delA	uc002mle.4	+	5	1312	c.905delA	c.(904-906)gaafs	p.E302fs	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Frame_Shift_Del_p.E196fs|ZNF559_uc010xkn.2_Frame_Shift_Del_p.E230fs|ZNF559_uc021uok.1_Frame_Shift_Del_p.E238fs|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CAAGATGGAGAAAAATTCTAT	0.363													---	72	---	---	38	---					
PLAC4	191585	broad.mit.edu	37	21	42551272	42551272	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5881-01A-11D-1589-08	TCGA-BQ-5881-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	759af132-b471-4ceb-b72a-3c665d2fd20c	6cd411c9-9521-4a49-9caf-2b2652a4c0e4	g.chr21:42551272delC	uc002yyz.3	-	0	5895	c.284delG	c.(283-285)ggafs	p.G95fs	BACE2_uc002yyw.3_Intron|BACE2_uc002yyx.3_Intron|BACE2_uc002yyy.3_Intron	NM_182832	NP_878252	Q8WY50	PLAC4_HUMAN	Homo sapiens placenta-specific 4 (PLAC4), mRNA.	95													Prostate(19;2.29e-06)				gtgagggtatccagggtgagt	0.602													---	7	---	---	8	---					
