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
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:44524456G>A	uc002zdb.1	-	1	185	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zda.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_006758	NP_001020375	Q01081	U2AF1_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1 (U2AF1), transcript variant a, mRNA.	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	p.S34F(103)|p.S34Y(27)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""									50			10		0	0	0.010729	0	0
ZNF304	57343	broad.mit.edu	37	19	57868932	57868932	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:57868932G>A	uc010etw.3	+	3	2224	c.1836G>A	c.(1834-1836)ggG>ggA	p.G612G	ZNF304_uc010ygw.2_Silent_p.G565G|ZNF304_uc010etx.3_Silent_p.G523G	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGAATGTGGGAAGGCTTACA	0.463000														69			12		0	0	0.013537	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	A	A	rs28934574		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|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.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	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)				68			24		0	0	0.014323	0	0
ROBO3	64221	broad.mit.edu	37	11	124740162	124740162	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:124740162C>T	uc001qbc.3	+	4	1037	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	290	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTCGTCTACGCTGGCGCAA	0.587000														70			31		0	0	0.007291	0	0
TRPM6	140803	broad.mit.edu	37	9	77416900	77416900	+	Silent	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:77416900C>T	uc004ajl.1	-	15	2161	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	TRPM6_uc004ajk.1_Silent_p.A636A|TRPM6_uc022bib.1_Silent_p.A636A|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	641					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A641V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAGGATACACGCAATCACGG	0.493000														80			30		0	0	0.010818	0	0
OR4C6	219432	broad.mit.edu	37	11	55433411	55433411	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:55433411A>G	uc010rik.2	+	0	769	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTCTTGTACATGAGGCCTGT	0.488000														154			27		0	0	0.003954	0	0
GLI2	2736	broad.mit.edu	37	2	121747768	121747768	+	Silent	SNP	G	A	A	rs143388073	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:121747768G>A	uc010flp.3	+	12	4308	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.S1098S|GLI2_uc002tmu.4_Silent_p.S1081S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1426					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1426L(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGGGGTCGGTGCCTCCCC	0.657000														177			48		0	0	0.014410	0	0
SMG9	56006	broad.mit.edu	37	19	44254784	44254784	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:44254784C>T	uc002oxj.2	-	1	453	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SMG9_uc002oxk.2_Missense_Mutation_p.R37Q|SMG9_uc010eiy.1_Missense_Mutation_p.R37Q	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	Homo sapiens smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG9), mRNA.	37					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GTCCCTCTCCCGACCACCAGG	0.582000														225			57		0	0	0.014410	0	0
RGPD5	84220	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:113127775G>C	uc002ths.2	-	22	5470	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1760					intracellular transport	cytoplasm	binding	p.P1760A(12)		central_nervous_system(1)	1						GAACGGGAAGGATTTTCTTCC	0.308000														41			3		0	0	0.000602	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596649	58596649	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:58596649G>A	uc010yht.1	-	6	1134	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	ZSCAN18_uc002qrj.3_Silent_p.D311D|ZSCAN18_uc010yhs.1_Silent_p.D176D|ZSCAN18_uc002qrh.2_Silent_p.D312D|ZSCAN18_uc002qri.2_Silent_p.D312D|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	312					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGCAAGGGCGTCCCCAGGGG	0.751000														54			22		0	0	0.002780	0	0
LOC390660	390660	broad.mit.edu	37	15	82620590	82620590	+	RNA	SNP	G	A	A	rs78476694	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:82620590G>A	uc021ssl.1	+	18		c.4070G>A			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		AAACTGGAGCGAGGCAAGTGG	0.637000														154			7		0	0	0.006214	0	0
KCNA5	3741	broad.mit.edu	37	12	5154138	5154138	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:5154138C>A	uc001qni.3	+	0	1054	c.825C>A	c.(823-825)ttC>ttA	p.F275L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	275						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCCTGAGTTCAGGGATGAAC	0.682000														857			72		8.87156e-34	9.3511e-34	0.014410	1	0
SLC26A1	10861	broad.mit.edu	37	4	985143	985143	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:985143T>A	uc003gcb.3	-	2	727	c.349A>T	c.(349-351)Acc>Tcc	p.T117S	SLC26A1_uc003gbx.3_Missense_Mutation_p.T117S|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.T117S	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	117						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCGTGAGGTGCCCATGAGG	0.627000														340			68		0	0	0.014410	0	0
TMEM108	66000	broad.mit.edu	37	3	133099793	133099793	+	Missense_Mutation	SNP	G	A	A	rs149789292		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:133099793G>A	uc003epi.3	+	3	1508	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	TMEM108_uc003eph.3_Missense_Mutation_p.R413Q|TMEM108_uc003epj.1_Missense_Mutation_p.R413Q|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	413						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGACCGACCGGGTGCCCAGT	0.612000														158			39		0	0	0.005524	0	0
ANKRD27	84079	broad.mit.edu	37	19	33095176	33095176	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:33095176G>C	uc002ntn.1	-	24	2804	c.2648C>G	c.(2647-2649)gCt>gGt	p.A883G		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	883					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TACCTGTTCAGCACAGTCTAC	0.542000														129			7		0	0	0.003080	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														36			4		0	0	0.009096	0	0
CDC20	991	broad.mit.edu	37	1	43826618	43826618	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:43826618C>T	uc001cix.3	+	7	1164	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	CDC20_uc001ciy.3_Nonsense_Mutation_p.Q355*	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	355					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCCAGCATCAAGGGGCTGT	0.537000														111			29		0	0	0.008361	0	0
C8orf47	203111	broad.mit.edu	37	8	99101495	99101495	+	Silent	SNP	C	T	T	rs151309291		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:99101495C>T	uc003yih.1	+	1	398	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	84										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGAACAGCCCCTGGCCAAGGA	0.547000														148			35		0	0	0.005524	0	0
FUT1	2523	broad.mit.edu	37	19	49253828	49253828	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49253828G>A	uc002pkk.3	-	3	1686	c.711C>T	c.(709-711)ggC>ggT	p.G237G	FUT1_uc021uwy.1_Silent_p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657000														356			73		0	0	0.014410	0	0
CDH20	28316	broad.mit.edu	37	18	59157880	59157880	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr18:59157880G>A	uc010dps.1	+	0	246	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CDH20_uc002lif.2_Missense_Mutation_p.V26I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGACCACCGTTCTCTCGGA	0.522000														105			37		0	0	0.003271	0	0
KIF24	347240	broad.mit.edu	37	9	34256484	34256484	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:34256484G>C	uc003zua.4	-	10	3241	c.3121C>G	c.(3121-3123)Cat>Gat	p.H1041D	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.T1040M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TATTCAGCATGCGTGCCTAAC	0.572000														167			34		0	0	0.003271	0	0
EIF4E1B	253314	broad.mit.edu	37	5	176072487	176072487	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:176072487C>T	uc010jkf.1	+	7	1168	c.584C>T	c.(583-585)gCg>gTg	p.A195V	TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.3_5'Flank|TSPAN17_uc003meu.3_5'Flank|TSPAN17_uc003mew.3_5'Flank	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	195					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGGGAGGCGGAAAACCAG	0.627000														113			5		0	0	0.000602	0	0
NTF4	4909	broad.mit.edu	37	19	49564658	49564658	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49564658G>A	uc002pmf.4	-	1	733	c.597C>T	c.(595-597)tgC>tgT	p.C199C	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Silent_p.C199C	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	199					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGTGCAGACGCAGGCAGTGT	0.607000														141			28		0	0	0.006320	0	0
EPHA10	284656	broad.mit.edu	37	1	38227571	38227571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38227571G>A	uc009vvi.3	-	2	442	c.356C>T	c.(355-357)gCg>gTg	p.A119V	EPHA10_uc001cbw.4_Missense_Mutation_p.A119V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	119						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGGTACCCGCGGCGCCAGG	0.652000														813			79		0	0	0.014410	0	0
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:8160957G>A	uc002mjf.3	-	43	5564	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1849	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582000														141			32		0	0	0.004289	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512928	68512928	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:68512928C>T	uc021ooq.1	-	0	53	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R18Q	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	18					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGCAGAAGCCGCAACCGCTT	0.582000														138			35		0	0	0.003755	0	0
MTUS2	23281	broad.mit.edu	37	13	29600513	29600513	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:29600513G>A	uc001usl.4	+	0	1766	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	560						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGATGTTAGCGTGTTCGGTAT	0.517000														149			42		0	0	0.014410	0	0
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:74635350C>T	uc002axt.2	-	4	1113	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.N319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602000														250			44		0	0	0.010771	0	0
CERS2	29956	broad.mit.edu	37	1	150938637	150938637	+	Missense_Mutation	SNP	C	T	T	rs145160991		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:150938637C>T	uc001evy.3	-	10	1556	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	CERS2_uc001evz.3_Missense_Mutation_p.R377H|CERS2_uc009wmh.3_Missense_Mutation_p.R227H	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	377						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTCATTCTTACGATGGTTGTT	0.547000														226			60		0	0	0.014410	0	0
DOCK8	81704	broad.mit.edu	37	9	286491	286491	+	Missense_Mutation	SNP	G	A	A	rs3209441	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:286491G>A	uc003zgf.2	+	2	299	c.187G>A	c.(187-189)Gac>Aac	p.D63N	DOCK8_uc011lls.1_Missense_Mutation_p.D63N|DOCK8_uc022bcu.1_5'UTR|DOCK8_uc010mgv.3_5'UTR|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_5'UTR|DOCK8_uc003zgg.3_5'UTR|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	63					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAGCCAGTGGACTTTGAAGG	0.517000														63			5		0	0	0.001168	0	0
CDCA8	55143	broad.mit.edu	37	1	38171170	38171170	+	Silent	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38171170C>T	uc001cbr.3	+	8	749	c.642C>T	c.(640-642)atC>atT	p.I214I	CDCA8_uc001cbs.3_Silent_p.I214I|CDCA8_uc010oih.1_Silent_p.I147I	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	214					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTACAACATCTCAGGGAATG	0.532000														134			92		0	0	0.014410	0	0
TRPS1	7227	broad.mit.edu	37	8	116427120	116427120	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:116427120G>C	uc003yny.3	-	6	3594	c.3016C>G	c.(3016-3018)Cag>Gag	p.Q1006E	TRPS1_uc011lhy.2_Missense_Mutation_p.Q997E|TRPS1_uc003ynz.3_Missense_Mutation_p.Q993E|TRPS1_uc010mcy.3_Missense_Mutation_p.Q993E	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	993	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTCTCTCTGGTGACTTTCA	0.502000									Langer-Giedion syndrome					212			11		0	0	0.010729	0	0
PCSK2	5126	broad.mit.edu	37	20	17462237	17462237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:17462237C>T	uc002wpm.3	+	11	1793	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	PCSK2_uc002wpl.3_Missense_Mutation_p.P461L|PCSK2_uc010zrm.2_Missense_Mutation_p.P445L|PCSK2_uc002wpn.3_Missense_Mutation_p.P134L	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	480					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAAAATACCATCCACTGGC	0.537000														189			39		0	0	0.007835	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														34			4		0	0	0.009096	0	0
OR2F1	26211	broad.mit.edu	37	7	143657411	143657411	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:143657411G>A	uc003wds.1	+	0	392	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTCCTGGCGGTGATGGCCT	0.537000														286			40		0	0	0.006999	0	0
LOC100288778	100288778	broad.mit.edu	37	12	88651	88651	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:88651A>G	uc010scy.2	+	5	715	c.160A>G	c.(160-162)Agc>Ggc	p.S54G	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdb.1_Non-coding_Transcript|LOC100288778_uc010sdc.1_Non-coding_Transcript|LOC100288778_uc010sdd.2_Missense_Mutation_p.S54G|LOC100288778_uc010sde.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdf.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdg.2_Missense_Mutation_p.S54G|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		TGACCTGCCCAGCATTGCCAA	0.587000														28			4		0	0	0.001984	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														318			10		0	0	0.001855	0	0
KRT17	3872	broad.mit.edu	37	17	39776925	39776925	+	Silent	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:39776925C>T	uc002hxh.2	-	5	1288	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	389	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CATCCTCTCCCTCCAGCAGGC	0.602000														185			22		0	0	0.012319	0	0
SLC6A13	6540	broad.mit.edu	37	12	347142	347142	+	Silent	SNP	G	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:347142G>T	uc001qic.2	-	4	603	c.513C>A	c.(511-513)tcC>tcA	p.S171S	SLC6A13_uc009zdj.2_Silent_p.S171S|SLC6A13_uc010sdl.2_Silent_p.S79S|SLC6A13_uc010sdm.1_Silent_p.S52S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	171					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S171C(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TACCATTCAGGGAGCCGTTGG	0.522000														67			353		4.19008e-182	4.53926e-182	0.014410	1	0
HIST1H2BC	8347	broad.mit.edu	37	6	26124090	26124090	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:26124090A>T	uc003ngk.4	-	0	65	c.43T>A	c.(43-45)Tcc>Acc	p.S15T	HIST1H2BC_uc003ngl.3_Missense_Mutation_p.S15T|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCCTTCTTGGAGCCCTTCTTC	0.512000														259			71		0	0	0.014410	0	0
GPR132	29933	broad.mit.edu	37	14	105518434	105518434	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:105518434C>T	uc001yqd.3	-	3	939	c.40G>A	c.(40-42)Gcc>Acc	p.A14T	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.A5T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	14					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACTGGGGTGGCGTTTCCTGTG	0.587000														173			46		0	0	0.014410	0	0
DDX11	1663	broad.mit.edu	37	12	31237922	31237922	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:31237922G>C	uc001rjt.1	+	4	751	c.500G>C	c.(499-501)aGa>aCa	p.R167T	DDX11_uc010sjw.1_Missense_Mutation_p.R167T|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R167T|DDX11_uc001rjs.1_Missense_Mutation_p.R167T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R167T|DDX11_uc001rjw.1_Missense_Mutation_p.R141T|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	167	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding	p.R167T(18)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGAAGAAAGAGAGAATCTC	0.612000										Multiple Myeloma(12;0.14)				45			4		0	0	0.009096	0	0
FOXF1	2294	broad.mit.edu	37	16	86544637	86544637	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:86544637G>T	uc002fjl.3	+	0	505	c.462G>T	c.(460-462)atG>atT	p.M154I	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	154					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCAAGCCCATGTACAGCATGA	0.677000														288			70		3.8128e-34	4.07395e-34	0.014410	1	0
RELB	5971	broad.mit.edu	37	19	45540789	45540789	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:45540789C>T	uc021uvq.1	+	11	1612	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	RELB_uc021uvp.1_Missense_Mutation_p.T491M|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	494						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TACGACCCTACGGCCCCCACA	0.692000														142			38		0	0	0.004289	0	0
KIAA0284	283638	broad.mit.edu	37	14	105354041	105354041	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:105354041G>A	uc001yps.3	+	10	3561	c.3255G>A	c.(3253-3255)cgG>cgA	p.R1085R	KIAA0284_uc010axb.3_Silent_p.R1085R|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1155						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCGTGGGCCGGCCAGCTGCTG	0.716000														37			3		0	0	0.009096	0	0
NAT10	55226	broad.mit.edu	37	11	34162110	34162110	+	Silent	SNP	G	A	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:34162110G>A	uc001mvk.3	+	23	2827	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A	NAT10_uc010ren.2_Silent_p.A789A	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	861	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCCTGTCTGCGGCTCAGTCGG	0.527000														71			14		0	0	0.003163	0	0
GIGYF2	26058	broad.mit.edu	37	2	233712228	233712230	+	In_Frame_Del	DEL	CAG	-	-	rs72096937		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:233712228_233712230delCAG	uc002vtj.4	+	28	3961_3963	c.3694_3696delCAG	c.(3694-3696)cagdel	p.Q1237del	GIGYF2_uc002vti.4_In_Frame_Del_p.Q1216del|GIGYF2_uc002vtk.4_In_Frame_Del_p.Q1216del|GIGYF2_uc002vth.4_In_Frame_Del_p.Q1210del|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc002vtq.4_In_Frame_Del_p.Q549del	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1216	Gln-rich.				cell death		protein binding	p.Q1216delQ(2)|p.Q1237delQ(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagctgccacagcagcagcagc	0.547													---	148	---	---	8	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	245	---	---	7	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	CG	CG	rs144787346	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:1388441_1388442insCG	uc003gdf.2	+	0	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													---	1350	---	---	7	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:89618431_89618433delCCT	uc003hrx.3	-	0	591_593	c.473_475delAGG	c.(472-477)gaggct>gct	p.E158del	HERC3_uc011cdn.1_Intron|HERC3_uc003hrw.1_Intron|HERC3_uc011cdo.1_Intron	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN	Homo sapiens nucleosome assembly protein 1-like 5 (NAP1L5), mRNA.	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													---	415	---	---	8	---					
DEK	7913	broad.mit.edu	37	6	18236737	18236740	+	Frame_Shift_Del	DEL	TTTC	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:18236737_18236740delTTTC	uc003ncr.1	-	8	1183_1186	c.990_993delGAAA	c.(988-993)aagaaafs	p.K330fs	DEK_uc011djf.1_Frame_Shift_Del_p.K296fs|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	330					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGCCAGTAATTTCTTTATTGTTT	0.314			T	NUP214	AML								---	51	---	---	8	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	222	---	---	7	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	-	-	rs142343457	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:28209226_28209228delGCA	uc003xgq.3	-	6	1105_1107	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													---	412	---	---	9	---					
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	-	-	rs3055861		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:41166638_41166640delGCT	uc003xnt.3	-	0	351_353	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764													---	17	---	---	18	---					
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:73480397delA	uc003xzb.3	+	1	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	143					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.Q143K(1)|p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGATATCATCAAAAAAAAGAA	0.448													---	166	---	---	7	---					
X97876	0	broad.mit.edu	37	9	66499823	66499824	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:66499823_66499824insTC	uc004aee.1	+	0	633_634	c.633_634insTC	c.(631-636)tatacafs	p.Y211fs	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CCACCTTCTATACAGTTATGCG	0.599													---	239	---	---	13	---					
BC070322	0	broad.mit.edu	37	9	69634663	69634664	+	RNA	INS	-	G	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:69634663_69634664insG	uc004afu.3	-	2		c.407_408insC								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		GGTGAAGATGCGGGGGGGGCAG	0.569													---	464	---	---	12	---					
CTNND1	1500	broad.mit.edu	37	11	57564171	57564172	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:57564171_57564172insC	uc001nmc.4	+	5	1234_1235	c.663_664insC	c.(661-666)tatccafs	p.Y221fs	CTNND1_uc001nlf.2_Frame_Shift_Ins_p.Y221fs|CTNND1_uc021qjk.1_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nlh.1_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nlj.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nlq.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nlr.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nln.4_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nli.4_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nlo.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nlp.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nlu.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nlt.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nlv.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nls.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nlw.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nmf.4_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nlk.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nme.4_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nll.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nlm.4_Frame_Shift_Ins_p.Y221fs|CTNND1_uc001nmi.4_Frame_Shift_Ins_p.Y120fs|CTNND1_uc001nmg.4_Frame_Shift_Ins_p.Y167fs|CTNND1_uc001nmh.4_Frame_Shift_Ins_p.Y221fs	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	221					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATGGTTATCCAGGTGGCAG	0.564													---	316	---	---	68	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	210	---	---	13	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:49087434_49087436delATG	uc001rsd.4	-	8	1884_1886	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del	CCNT1_uc009zkz.2_In_Frame_Del_p.H236del|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													---	458	---	---	7	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													---	362	---	---	10	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	834	---	---	16	---					
TAOK2	9344	broad.mit.edu	37	16	29994531	29994533	+	In_Frame_Del	DEL	GAG	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:29994531_29994533delGAG	uc010bzm.2	+	10	1194_1196	c.1159_1161delGAG	c.(1159-1161)gagdel	p.E399del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_In_Frame_Del_p.E392del|TAOK2_uc021tgf.1_In_Frame_Del_p.E392del|TAOK2_uc002dva.2_In_Frame_Del_p.E392del|TAOK2_uc002dvc.2_In_Frame_Del_p.E392del|TAOK2_uc002dvd.2_In_Frame_Del_p.E219del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	392	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAACgaggaagaggaggaggagg	0.611													---	314	---	---	7	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:40900180_40900182delTCC	uc002onr.3	-	6	4346_4348	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_uc002onq.3_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													---	105	---	---	7	---					
CNOT3	4849	broad.mit.edu	37	19	54649671	54649671	+	Frame_Shift_Del	DEL	T	-	-	rs36665	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:54649671delT	uc002qdj.2	+	8	1053	c.729delT	c.(727-729)cctfs	p.P243fs	CNOT3_uc010yel.2_Frame_Shift_Del_p.P243fs|CNOT3_uc002qdi.3_Frame_Shift_Del_p.P156fs|CNOT3_uc002qdk.2_Frame_Shift_Del_p.P243fs|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	243					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCACCTCCCCTCCCAGCCACA	0.632													---	230	---	---	8	---					
CLIC6	54102	broad.mit.edu	37	21	36042463	36042492	+	In_Frame_Del	DEL	GCGTAGAAGCGGGGGTCCCGGCGGGGGACA	-	-	rs62213790	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:36042463_36042492delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	uc010gmt.1	+	0	776_805	c.776_805delGCGTAGAAGCGGGGGTCCCGGCGGGGGACA	c.(775-807)ggcgtagaagcgggggtcccggcgggggacagc>ggc	p.VEAGVPAGDS260del	CLIC6_uc002yuf.1_In_Frame_Del_p.VEAGVPAGDS260del	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	260	13 X 10 AA tandem repeat of G-D-[SNG]- [VIM]-[DEQ]-A-[EAG]-[GDVE]-[PRG]-[LAVP].					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity	p.S269G(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GCGGGGGACGGCGTAGAAGCGGGGGTCCCGGCGGGGGACAGCGTAGAAGC	0.761													---	5	---	---	3	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	392	---	---	11	---					
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr22:42610776_42610778delTGC	uc003bcj.1	-	0	668_670	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_uc003bck.1_In_Frame_Del_p.178_179QQ>Q	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	178	Poly-Gln.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571													---	225	---	---	10	---					
