Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
ENO1	2023	broad.mit.edu	37	1	8928111	8928111	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:8928111C>G	uc001apj.1	-	5	397	c.246G>C	c.(244-246)CTG>CTC	p.L82L	ENO1_uc001api.1_5'UTR|ENO1_uc001apk.1_Silent_p.L27L|ENO1_uc001apl.1_Silent_p.L82L|ENO1_uc009vmi.1_Intron|ENO1_uc009vmj.1_Silent_p.L82L|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Silent_p.L82L	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	82					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTGTGACGTTCAGTTTCTACG	0.473		NA											21	304					0	0	0	0
KIF1B	23095	broad.mit.edu	37	1	10357284	10357284	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:10357284C>A	uc001aqx.3	+	22	2297	c.2095C>A	c.(2095-2097)CTT>ATT	p.L699I	KIF1B_uc001aqv.3_Missense_Mutation_p.L653I|KIF1B_uc001aqw.3_Missense_Mutation_p.L653I|KIF1B_uc001aqy.2_Missense_Mutation_p.L673I|KIF1B_uc001aqz.2_Missense_Mutation_p.L699I|KIF1B_uc001ara.2_Missense_Mutation_p.L659I|KIF1B_uc001arb.2_Missense_Mutation_p.L685I	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	699	Potential.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGCAGATCTTCTTTTGGAGCA	0.393		NA											19	143					2.38e-13	9.52e-13	1	0
TCHHL1	126637	broad.mit.edu	37	1	152058381	152058381	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:152058381C>G	uc001ezo.1	-	3	1842	c.1777G>C	c.(1777-1779)GAT>CAT	p.D593H		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	593							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTCTGGGTATCTGGGTTATTA	0.542		NA											11	181					0	0	0	0
F13B	2165	broad.mit.edu	37	1	197021931	197021931	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:197021931C>G	uc001gtt.1	-	9	1432	c.1388G>C	c.(1387-1389)AGA>ACA	p.R463T		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	463	Sushi 8.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						TATGTTATTTCTGTTCATGTA	0.279		NA											8	71					0	0	0	0
ATP2B4	493	broad.mit.edu	37	1	203652440	203652440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr1:203652440G>A	uc001gzw.2	+	2	991	c.107G>A	c.(106-108)CGT>CAT	p.R36H	ATP2B4_uc001gzv.2_Missense_Mutation_p.R36H|ATP2B4_uc009xaq.2_Missense_Mutation_p.R36H	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	36	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGGAGCTGCGTTCAAGGGAT	0.522		NA											10	165					0	0	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789871	26789871	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:26789871A>T	uc001iss.2	+	5	605	c.284A>T	c.(283-285)CAT>CTT	p.H95L	APBB1IP_uc001isr.2_Missense_Mutation_p.H95L|APBB1IP_uc009xks.1_Missense_Mutation_p.H95L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	95					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AATCAACATCATTCAGCATCT	0.448		NA											9	109					0	0	0	0
FAM13C	220965	broad.mit.edu	37	10	61014170	61014170	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:61014170G>A	uc001jkn.2	-	12	1404	c.1270C>T	c.(1270-1272)CTT>TTT	p.L424F	FAM13C_uc001jko.2_Missense_Mutation_p.L326F|FAM13C_uc010qid.1_Missense_Mutation_p.L341F|FAM13C_uc010qie.1_Missense_Mutation_p.L341F|FAM13C_uc010qif.1_Missense_Mutation_p.L446F|FAM13C_uc001jkp.2_Missense_Mutation_p.L341F	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	424										ovary(2)	2						CGGTCATAAAGCGGCTTTATG	0.348		NA											7	115					0	0	0	0
RNLS	55328	broad.mit.edu	37	10	90034742	90034742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:90034742C>T	uc001kfd.2	-	7	1059	c.924G>A	c.(922-924)ATG>ATA	p.M308I	RNLS_uc010qms.1_Missense_Mutation_p.M225I	NM_018363	NP_060833	Q5VYX0	RNLS_HUMAN	renalase isoform 2	Error:Variant_position_missing_in_Q5VYX0_after_alignment						extracellular region	oxidoreductase activity			ovary(1)	1						CAATCGCCATCATCCAGGGGC	0.393		NA											6	54					0	0	0	0
PLCE1	51196	broad.mit.edu	37	10	96028705	96028705	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr10:96028705G>A	uc001kjk.2	+	17	4935	c.4301G>A	c.(4300-4302)CGA>CAA	p.R1434Q	PLCE1_uc010qnx.1_Missense_Mutation_p.R1418Q|PLCE1_uc001kjm.2_Missense_Mutation_p.R1126Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1434	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CAAGGCTGTCGAAGTGTAGAA	0.488		NA											10	69					0	0	0	0
NUP98	4928	broad.mit.edu	37	11	3697545	3697545	+	Silent	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:3697545A>G	uc001lyh.2	-	33	5538	c.5247T>C	c.(5245-5247)GAT>GAC	p.D1749D	NUP98_uc001lyi.2_Silent_p.D1675D|NUP98_uc001lyg.2_Silent_p.D714D	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	1766					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CGGAGGTTCTATCAGGAGGAT	0.567		NA	T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								12	89					0	0	0	0
KAT5	10524	broad.mit.edu	37	11	65482118	65482118	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:65482118C>T	uc001ofi.2	+	8	994	c.744C>T	c.(742-744)TCC>TCT	p.S248S	KAT5_uc001ofj.2_Silent_p.S196S|KAT5_uc001ofk.2_Silent_p.S281S|KAT5_uc010roo.1_Silent_p.S229S|KAT5_uc001ofl.2_Silent_p.S37S	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	248					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						GGTACTTCTCCCCGTACCCAC	0.562		NA											25	136					0	0	0	0
MED17	9440	broad.mit.edu	37	11	93528169	93528169	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:93528169A>G	uc001pem.3	+	6	1230	c.955A>G	c.(955-957)AAA>GAA	p.K319E		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	319					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTTCAAATTAAATCACAAGT	0.418		NA											4	114					0	0	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103062954	103062954	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr11:103062954C>G	uc001pho.2	+	47	7813	c.7669C>G	c.(7669-7671)CAA>GAA	p.Q2557E	DYNC2H1_uc001phn.1_Missense_Mutation_p.Q2557E|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2557					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATCAGTGTTTCAAGGAGATTG	0.338		NA											4	24					0	0	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19282753	19282753	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:19282753T>G	uc001reb.2	+	1	106	c.20T>G	c.(19-21)CTG>CGG	p.L7R	PLEKHA5_uc010sie.1_Missense_Mutation_p.L7R|PLEKHA5_uc001rea.2_Missense_Mutation_p.L7R|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.L7R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	7							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATCTGAACCTGGAGTGGATC	0.517		NA											3	21					0	0	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48143717	48143717	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:48143717G>A	uc009zkp.2	-	7	1127	c.687C>T	c.(685-687)ACC>ACT	p.T229T	RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Silent_p.T229T|RAPGEF3_uc001rpz.3_Silent_p.T271T|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Silent_p.T283T|RAPGEF3_uc001rqb.3_Silent_p.T271T	NM_001098532	NP_001092002	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor 3 isoform	229					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			lung(2)|skin(1)|pancreas(1)	4	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		ACTTACACACGGTCCCTGCCT	0.567		NA											23	301					0	0	0	0
SRGAP1	57522	broad.mit.edu	37	12	64502717	64502717	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:64502717G>C	uc010ssp.1	+	16	1875	c.1819G>C	c.(1819-1821)GAT>CAT	p.D607H	SRGAP1_uc001srv.2_Missense_Mutation_p.D544H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	607	Rho-GAP.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTAGGAATAGATAATCTCTA	0.443		NA											12	89					0	0	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067320	102067320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:102067320G>A	uc001tii.2	+	24	2810	c.2708G>A	c.(2707-2709)AGG>AAG	p.R903K	MYBPC1_uc001tig.2_Missense_Mutation_p.R910K|MYBPC1_uc010svq.1_Missense_Mutation_p.R872K|MYBPC1_uc001tih.2_Missense_Mutation_p.R910K|MYBPC1_uc001tij.2_Missense_Mutation_p.R885K|MYBPC1_uc010svr.1_Missense_Mutation_p.R885K|MYBPC1_uc010svs.1_Missense_Mutation_p.R903K|MYBPC1_uc010svt.1_Missense_Mutation_p.R873K|MYBPC1_uc010svu.1_Missense_Mutation_p.R866K|MYBPC1_uc001tik.2_Missense_Mutation_p.R859K|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	myosin binding protein C, slow type isoform 3	903	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			ovary(2)|liver(1)|skin(1)	4						AAAGCAGAGAGGAGCCACTCT	0.388		NA											44	187					0	0	0	0
TCHP	84260	broad.mit.edu	37	12	110345367	110345367	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345367G>A	uc001tpn.2	+	6	715	c.562G>A	c.(562-564)GAA>AAA	p.E188K	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.E188K	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	188	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						CAAACGGTATGAAAATGAATA	0.507		NA											8	104					0	0	0	0
TCTN2	79867	broad.mit.edu	37	12	124172678	124172678	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:124172678G>C	uc001ufp.2	+	7	973	c.845G>C	c.(844-846)GGA>GCA	p.G282A	TCTN2_uc009zya.2_Missense_Mutation_p.G281A	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	tectonic family member 2 isoform 1	282	Extracellular (Potential).				cilium assembly|smoothened signaling pathway	integral to membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TACAAACAAGGAGATCCCATT	0.343		NA											14	102					0	0	0	0
TRIM13	10206	broad.mit.edu	37	13	50586806	50586806	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr13:50586806G>C	uc001vdq.1	+	3	1043	c.730G>C	c.(730-732)GAA>CAA	p.E244Q	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_5'Flank|KCNRG_uc001vdu.2_5'Flank|TRIM13_uc001vdp.1_Missense_Mutation_p.E247Q|TRIM13_uc001vdr.1_Missense_Mutation_p.E244Q|TRIM13_uc001vds.1_Missense_Mutation_p.E244Q	NM_052811	NP_434698	O60858	TRI13_HUMAN	ret finger protein 2 isoform 1	244					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGATGTGTCAGAACCCATTGT	0.423		NA											4	53					0	0	0	0
OR4N2	390429	broad.mit.edu	37	14	20296393	20296393	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:20296393C>T	uc010tkv.1	+	1	786	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	262	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCGCCCCTTCAGGGCTTTCC	0.458		NA											15	93					0	0	0	0
PRKD1	5587	broad.mit.edu	37	14	30107997	30107997	+	Silent	SNP	C	C	T	rs144272752	byFrequency	TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:30107997C>T	uc001wqh.2	-	5	991	c.810G>A	c.(808-810)CCG>CCA	p.P270P		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	270	Phorbol-ester/DAG-type 2.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.P270L(1)		lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAATGTGTGCGGCACTTTAA	0.468		NA											8	44					0	0	0	0
VIPAR	63894	broad.mit.edu	37	14	77901690	77901690	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr14:77901690C>A	uc001xtt.1	-	15	1297	c.959G>T	c.(958-960)CGA>CTA	p.R320L	VIPAR_uc001xtu.1_Missense_Mutation_p.R320L|VIPAR_uc010tvj.1_Missense_Mutation_p.R271L|VIPAR_uc001xtv.1_Missense_Mutation_p.R320L	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	hypothetical protein LOC63894	320					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding			central_nervous_system(1)	1						GGGGTGCTTTCGGAAGATCTC	0.463		NA											9	106					3.07e-06	1.19e-05	1	0
MKRN3	7681	broad.mit.edu	37	15	23811808	23811808	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr15:23811808C>G	uc001ywh.3	+	1	1355	c.879C>G	c.(877-879)CAC>CAG	p.H293Q	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.H293Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	293	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TTGAAGCACACGAGAAAGATA	0.532		NA											3	38					0	0	0	0
GLYR1	84656	broad.mit.edu	37	16	4861236	4861236	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:4861236G>T	uc002cxx.3	-	15	1559	c.1522C>A	c.(1522-1524)CGC>AGC	p.R508S	GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Missense_Mutation_p.R422S|GLYR1_uc002cya.2_Missense_Mutation_p.R502S|GLYR1_uc010uxv.1_Missense_Mutation_p.R427S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	508					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						ATGGCTAAGCGGAGATCCTTC	0.507		NA											14	130					2e-07	7.85e-07	1	0
MYH11	4629	broad.mit.edu	37	16	15826519	15826519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:15826519C>T	uc002ddy.2	-	27	3660	c.3553G>A	c.(3553-3555)GAA>AAA	p.E1185K	MYH11_uc002ddv.2_Missense_Mutation_p.E1192K|MYH11_uc002ddw.2_Missense_Mutation_p.E1185K|MYH11_uc002ddx.2_Missense_Mutation_p.E1192K|MYH11_uc010bvg.2_Missense_Mutation_p.E1017K	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	1185	Potential.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						CGCGTCTCTTCATCCAGGGCC	0.587		NA	T	CBFB	AML								10	108					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30721369	30721369	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:30721369C>G	uc002dze.1	+	8	1439	c.1054C>G	c.(1054-1056)CAA>GAA	p.Q352E	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.Q209E|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	352	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			CAGCCCCTCTCAAACCCCCTC	0.577		NA											4	29					0	0	0	0
GAS8	2622	broad.mit.edu	37	16	90097737	90097737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr16:90097737G>C	uc002fqi.1	+	3	243	c.121G>C	c.(121-123)GAG>CAG	p.E41Q	GAS8_uc010vps.1_Missense_Mutation_p.E16Q|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Missense_Mutation_p.E41Q|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Missense_Mutation_p.E12Q|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	growth arrest-specific 8	41	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			ovary(1)	1		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CATCCGGGAGGAGCTGGACCG	0.647		NA											3	51					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:7577539G>A	uc002gim.2	-	7	936	c.742C>T	c.(742-744)CGG>TGG	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			13	60					0	0	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962166	26962166	+	Silent	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:26962166C>A	uc002hbu.2	-	16	2538	c.2439G>T	c.(2437-2439)CGG>CGT	p.R813R		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	813						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					AAACACGGTTCCGGAGGGTCT	0.527		NA											15	144					1.52e-12	6.05e-12	1	0
SLFN11	91607	broad.mit.edu	37	17	33680115	33680115	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:33680115T>A	uc010ctp.2	-	7	2408	c.1966A>T	c.(1966-1968)AGA>TGA	p.R656*	SLFN11_uc010ctq.2_Nonsense_Mutation_p.R656*|SLFN11_uc002hjh.3_Nonsense_Mutation_p.R656*|SLFN11_uc002hjg.3_Nonsense_Mutation_p.R656*|SLFN11_uc010ctr.2_Nonsense_Mutation_p.R656*	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	656						nucleus	ATP binding			large_intestine(1)|ovary(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGTTTTCTCTTAGGAAAGTT	0.398		NA											11	101					0	0	0	0
DDX52	11056	broad.mit.edu	37	17	36002253	36002253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:36002253C>T	uc002hoi.1	-	2	210	c.172G>A	c.(172-174)GTG>ATG	p.V58M	DDX52_uc002hoh.1_Translation_Start_Site|DDX52_uc002hoj.1_Translation_Start_Site	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	58						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				GCTCCACACACACCTGGGACA	0.413		NA											12	76					0	0	0	0
KIF18B	146909	broad.mit.edu	37	17	43005428	43005428	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:43005428C>G	uc010wji.1	-	13	2352	c.2251G>C	c.(2251-2253)GAG>CAG	p.E751Q	KIF18B_uc002iht.2_Missense_Mutation_p.E760Q|KIF18B_uc010wjh.1_Missense_Mutation_p.E748Q	NM_001080443	NP_001073912			kinesin family member 18B											ovary(2)	2		Prostate(33;0.155)				CTGCTCAGCTCCTGGGGTATT	0.577		NA											3	32					0	0	0	0
TMC8	147138	broad.mit.edu	37	17	76128900	76128900	+	Silent	SNP	G	G	T	rs150261314		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr17:76128900G>T	uc002jup.2	+	5	862	c.480G>T	c.(478-480)CCG>CCT	p.P160P	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	160	Lumenal (Potential).					endoplasmic reticulum membrane|integral to membrane					0			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCCAGTCCCCGCCTGGCGTTT	0.597		NA							Epidermodysplasia_Verruciformis_Familial_Clustering_of				6	102					0.000157383	0.000592107	1	0
UHRF1	29128	broad.mit.edu	37	19	4910937	4910937	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:4910937C>A	uc002mbo.2	+	2	208	c.40C>A	c.(40-42)CAC>AAC	p.H14N	uc002mbn.1_5'Flank|UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.H27N	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	14	Ubiquitin-like.				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAGGCAGACCCACACGGTGGA	0.612		NA									OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	134					0.00198382	0.00728581	1	0
KLF1	10661	broad.mit.edu	37	19	12997871	12997871	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:12997871G>A	uc002mvo.2	-	1	147	c.84C>T	c.(82-84)CTC>CTT	p.L28L		NM_006563	NP_006554	Q13351	KLF1_HUMAN	erythroid Kruppel-like factor	28	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding				0		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCACCTTGAGGAAGTCAT	0.622		NA											7	59					0	0	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698963	29698963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:29698963C>G	uc002nsd.2	-	2	428	c.317G>C	c.(316-318)AGC>ACC	p.S106T		NM_006003	NP_005994	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske	106					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity				0	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			AGCCTCGCTGCTTTCTCTTGA	0.478		NA											3	115					0	0	0	0
YIF1B	90522	broad.mit.edu	37	19	38799436	38799436	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:38799436C>T	uc002ohz.2	-	5	584	c.535G>A	c.(535-537)GAT>AAT	p.D179N	YIF1B_uc002ohw.2_Missense_Mutation_p.D148N|YIF1B_uc002ohx.2_Missense_Mutation_p.D164N|YIF1B_uc010xtx.1_Missense_Mutation_p.D162N|YIF1B_uc010xty.1_Missense_Mutation_p.D148N|YIF1B_uc002oia.2_Missense_Mutation_p.D176N|YIF1B_uc002ohy.2_Missense_Mutation_p.D176N|YIF1B_uc002oib.2_Missense_Mutation_p.D176N	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B isoform 5	179	Extracellular (Potential).					integral to membrane					0	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTACCTATCCTGGGTCCCC	0.567		NA											9	248					0	0	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48253511	48253511	+	Silent	SNP	C	C	G	rs148201586		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:48253511C>G	uc002phm.2	+	3	390	c.366C>G	c.(364-366)CTC>CTG	p.L122L	GLTSCR2_uc002phk.2_Silent_p.L122L|GLTSCR2_uc002phl.2_Silent_p.L122L|GLTSCR2_uc010elj.2_Silent_p.L122L|GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	122						nucleolus				central_nervous_system(1)	1		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACCTCATCCTCGAGAACACAT	0.522		NA											3	50					0	0	0	0
TSEN34	79042	broad.mit.edu	37	19	54695773	54695773	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr19:54695773G>A	uc002qdu.2	+	3	554	c.445G>A	c.(445-447)GAG>AAG	p.E149K	MBOAT7_uc002qdq.2_5'Flank|MBOAT7_uc002qdr.2_5'Flank|MBOAT7_uc002qds.2_5'Flank|MBOAT7_uc010yen.1_5'Flank|MBOAT7_uc002qdt.3_5'Flank|TSEN34_uc010yeo.1_Missense_Mutation_p.E149K|TSEN34_uc002qdv.2_Missense_Mutation_p.E149K|TSEN34_uc002qdw.2_Missense_Mutation_p.E149K	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	tRNA-intron endonuclease 34	149					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity				0	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CAAAGAGGATGAGACCAGTGA	0.597		NA											16	69					0	0	0	0
EMILIN1	11117	broad.mit.edu	37	2	27306123	27306123	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:27306123C>G	uc002rii.3	+	4	2112	c.1684C>G	c.(1684-1686)CTC>GTC	p.L562V	EMILIN1_uc002rik.3_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1 precursor	562					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGAATCTCACTGCGGC	0.642		NA											7	51					0	0	0	0
SOS1	6654	broad.mit.edu	37	2	39250272	39250272	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:39250272C>T	uc002rrk.3	-	10	1338	c.1297G>A	c.(1297-1299)GAG>AAG	p.E433K	SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_Missense_Mutation_p.E47K|SOS1_uc002rrl.2_Missense_Mutation_p.E165K	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	433			E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E433K(1)		ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				TCTTTTCCCTCCCAACCATCA	0.388		NA							Noonan_syndrome				5	78					0	0	0	0
RGPD4	285190	broad.mit.edu	37	2	108488225	108488226	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:108488225_108488226GG>AA	uc010ywk.1	+	20	3847_3848	c.3765_3766GG>AA	c.(3763-3768)AGGGAA>AGAAAA	p.E1256K	RGPD4_uc002tdu.2_Missense_Mutation_p.E443K|RGPD4_uc010ywl.1_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1256					intracellular transport		binding			skin(2)	2						GTGATTTAAGGGAAGATGCTTT	0.45		NA											69	392					0	0	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541833	133541833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:133541833C>T	uc002ttp.2	-	14	2925	c.2551G>A	c.(2551-2553)GAG>AAG	p.E851K	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	851							protein binding				0						CCTGAGCTCTCAGTCTTCATG	0.537		NA											8	142					0	0	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3147473	3147473	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr20:3147473C>T	uc002wia.1	-	1	1735	c.337G>A	c.(337-339)GGC>AGC	p.G113S	ProSAPiP1_uc002wib.1_Missense_Mutation_p.G113S	NM_014731	NP_055546	O60299	PRIP1_HUMAN	ProSAPiP1 protein	113						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				pancreas(1)	1						ACCACGTTGCCACAGACATCG	0.652		NA											5	49					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41513521	41513521	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:41513521G>T	uc003azl.3	+	2	820	c.425G>T	c.(424-426)GGA>GTA	p.G142V		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	142					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GGCACTAGTGGACCAAATCAG	0.493		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				6	40					5.94e-07	2.32e-06	1	0
PKDREJ	10343	broad.mit.edu	37	22	46656522	46656522	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr22:46656522T>C	uc003bhh.2	-	1	2698	c.2698A>G	c.(2698-2700)AAT>GAT	p.N900D		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	900	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATGGGACCATTTGCAGACAGA	0.403		NA											12	91					0	0	0	0
TGFBR2	7048	broad.mit.edu	37	3	30691947	30691947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:30691947C>G	uc003ceo.2	+	3	831	c.449C>G	c.(448-450)TCA>TGA	p.S150*	TGFBR2_uc003cen.2_Nonsense_Mutation_p.S175*	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	150	Extracellular (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						ATCATCTTCTCAGAAGGTGAG	0.433		NA											4	62					0	0	0	0
RBM15B	29890	broad.mit.edu	37	3	51430468	51430468	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:51430468G>A	uc003dbd.2	+	1	1738	c.1638G>A	c.(1636-1638)TTG>TTA	p.L546L		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	546					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGACTTTTTTGGAAGGGGACT	0.627		NA											6	55					0	0	0	0
KNG1	3827	broad.mit.edu	37	3	186435424	186435424	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr3:186435424G>T	uc011bsa.1	+	1	305	c.93G>T	c.(91-93)AAG>AAT	p.K31N	KNG1_uc003fqr.2_Missense_Mutation_p.K31N	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	31	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	GCAATGACAAGGATTTATTTA	0.393		NA											6	70					3.6e-05	0.000137899	1	0
FAT4	79633	broad.mit.edu	37	4	126241929	126241929	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:126241929C>G	uc003ifj.3	+	1	4363	c.4363C>G	c.(4363-4365)CTA>GTA	p.L1455V		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1455	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TAATGGTCAACTATCCTACAC	0.393		NA											5	104					0	0	0	0
FAT1	2195	broad.mit.edu	37	4	187539417	187539417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr4:187539417G>A	uc003izf.2	-	10	8511	c.8323C>T	c.(8323-8325)CAG>TAG	p.Q2775*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2775	Extracellular (Potential).|Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATGGAAAACTGATACCACTTA	0.453		NA								HNSCC(5;0.00058)			21	237					0	0	0	0
PGBD1	84547	broad.mit.edu	37	6	28269233	28269233	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:28269233C>G	uc003nky.2	+	7	1972	c.1602C>G	c.(1600-1602)CTC>CTG	p.L534L	PGBD1_uc003nkz.2_Silent_p.L534L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	534					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			ovary(4)	4						AAAATTTCCTCTTGTATGCTC	0.353		NA											3	85					0	0	0	0
HLA-A	3105	broad.mit.edu	37	6	29912175	29912175	+	Splice_Site	SNP	G	G	T	rs41547331		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:29912175G>T	uc003nol.2	+	4	895	c.895_splice	c.e4+1	p.E299_splice	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc010jrq.2_Splice_Site_p.E178_splice|HLA-A_uc003nok.2_Splice_Site_p.E178_splice|HLA-A_uc003non.2_Splice_Site_p.E299_splice|HLA-A_uc003noo.2_Splice_Site_p.E299_splice|HLA-A_uc010jrr.2_Splice_Site_p.V299_splice|HLA-A_uc003nom.2_Splice_Site_p.E178_splice|HLA-A_uc010klp.2_Splice_Site_p.D271_splice|HLA-A_uc011dmc.1_Splice_Site_p.E178_splice|HLA-A_uc011dmd.1_Splice_Site_p.E178_splice	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						CTGAGATGGGGTAAGGAGGGA	0.597		NA							Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			7	37					8.13e-05	0.000307674	1	0
USP49	25862	broad.mit.edu	37	6	41773790	41773790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:41773790G>A	uc003ori.2	-	4	1154	c.932C>T	c.(931-933)TCG>TTG	p.S311L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	311					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCGTGGCCGAGCTGTTGGT	0.572		NA											7	72					0	0	0	0
KIAA1009	22832	broad.mit.edu	37	6	84872909	84872909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:84872909C>T	uc010kbp.2	-	19	2563	c.2466G>A	c.(2464-2466)ATG>ATA	p.M822I	KIAA1009_uc003pkj.3_Missense_Mutation_p.M746I|KIAA1009_uc003pki.3_Missense_Mutation_p.M208I	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	822	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTTTCTTCATTTTTTCGA	0.333		NA											13	119					0	0	0	0
ARID1B	57492	broad.mit.edu	37	6	157528758	157528758	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:157528758C>T	uc003qqn.2	+	20	6581	c.6429C>T	c.(6427-6429)AGC>AGT	p.S2143S	ARID1B_uc003qqo.2_Silent_p.S2103S|ARID1B_uc003qqp.2_Silent_p.S2090S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2148					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTTGATAAGCTTCCTAGAGG	0.552		NA											7	139					0	0	0	0
TAGAP	117289	broad.mit.edu	37	6	159463226	159463226	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr6:159463226G>T	uc003qrz.2	-	5	531	c.199C>A	c.(199-201)CTC>ATC	p.L67I	TAGAP_uc011eft.1_Missense_Mutation_p.L4I|TAGAP_uc003qsa.2_Intron|TAGAP_uc003qsb.2_Missense_Mutation_p.L67I|uc003qsc.2_5'Flank	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN	T-cell activation Rho GTPase-activating protein	67					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCAGGGGAGAGCCTTCTCATG	0.448		NA											9	217					0.000274275	0.00102562	1	0
TARP	445347	broad.mit.edu	37	7	38305122	38305122	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr7:38305122C>G	uc003tge.1	-	5	962	c.585G>C	c.(583-585)ACG>ACC	p.T195T	uc003tfz.1_Intron|TARP_uc003tgb.2_5'UTR|TARP_uc003tgc.1_5'UTR|TARP_uc003tgd.1_5'UTR|TARP_uc010kxi.1_RNA|TARP_uc003tgf.1_RNA|TARP_uc003tgj.1_RNA|TARP_uc003tgh.1_RNA|TARP_uc003tgi.1_RNA|TARP_uc003tgg.1_RNA			A2JGV3	A2JGV3_HUMAN	Homo sapiens TCRgamma alternate reading frame protein (TCRg) mRNA, complete cds.	Error:Variant_position_missing_in_A2JGV3_after_alignment											0						ATCCCAGAATCGTGTTGCTCT	0.418		NA											6	175					0	0	0	0
MYOM2	9172	broad.mit.edu	37	8	2020522	2020522	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:2020522C>G	uc003wpx.3	+	9	1029	c.891C>G	c.(889-891)CTC>CTG	p.L297L	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	297	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGTCACTCTCAAGTGCACCA	0.617		NA											3	31					0	0	0	0
UBR5	51366	broad.mit.edu	37	8	103358503	103358503	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:103358503C>T	uc003ykr.1	-	7	730	c.697G>A	c.(697-699)GAT>AAT	p.D233N	UBR5_uc003yks.1_Missense_Mutation_p.D233N	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	233					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCCCCATCATCTCCATCT	0.433		NA											7	99					0	0	0	0
RIMS2	9699	broad.mit.edu	37	8	104709390	104709390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:104709390C>T	uc003ylp.2	+	2	392	c.253C>T	c.(253-255)CAG>TAG	p.Q85*		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	116	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACAGCAAGAACAGAAGGGTGA	0.413		NA								HNSCC(12;0.0054)			11	78					0	0	0	0
ANGPT1	284	broad.mit.edu	37	8	108509701	108509701	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr8:108509701C>G	uc003ymn.2	-	1	554	c.86G>C	c.(85-87)AGT>ACT	p.S29T	ANGPT1_uc003ymo.2_Missense_Mutation_p.S29T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	29					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TCTTCTCCCACTGTTTTCTGG	0.483		NA											5	65					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:21971120G>A	uc003zpk.2	-	2	450	c.238C>T	c.(238-240)CGA>TGA	p.R80*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	80	ANK 3.		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	20					0	0	0	0
AQP7	364	broad.mit.edu	37	9	33385823	33385823	+	Silent	SNP	G	G	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:33385823G>A	uc003zst.2	-	7	739	c.567C>T	c.(565-567)ATC>ATT	p.I189I	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.I132I|AQP7_uc010mjs.2_Silent_p.I97I|AQP7_uc010mjt.2_Silent_p.I97I|AQP7_uc011lnx.1_Silent_p.I189I|AQP7_uc011lny.1_Silent_p.I188I|AQP7_uc003zss.3_Silent_p.I97I|AQP7_uc011lnz.1_Silent_p.I97I|AQP7_uc011loa.1_Missense_Mutation_p.H58Y	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	189	Helical; (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCTGGTCCGTGATGGCGAAGA	0.622		NA											5	74					0	0	0	0
COBRA1	25920	broad.mit.edu	37	9	140150358	140150358	+	Splice_Site	SNP	G	G	C			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr9:140150358G>C	uc004cmm.3	+	2	306	c.103_splice	c.e2-1	p.T35_splice		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	cofactor of BRCA1						negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		GGCTTCCTCAGACAGAGAATG	0.632		NA											11	113					0	0	0	0
OFD1	8481	broad.mit.edu	37	X	13762639	13762639	+	Splice_Site	SNP	G	G	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:13762639G>T	uc004cvp.3	+	6	876	c.517_splice	c.e6+1	p.A173_splice	OFD1_uc004cvr.3_Splice_Site|OFD1_uc011mil.1_Splice_Site|OFD1_uc004cvq.3_Splice_Site_p.A33_splice|OFD1_uc010nen.2_Splice_Site_p.A172_splice|OFD1_uc004cvs.3_Splice_Site|OFD1_uc004cvu.3_Splice_Site_p.A172_splice|OFD1_uc004cvv.3_Splice_Site_p.A172_splice|OFD1_uc010neo.1_5'Flank	NM_003611	NP_003602	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1						cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding				0						GATTCTCTGGGTAATTATAGC	0.323		NA											3	11					6.4e-05	0.000243753	1	0
TAF7L	54457	broad.mit.edu	37	X	100524182	100524182	+	Silent	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:100524182C>T	uc004ehb.2	-	13	1400	c.1388G>A	c.(1387-1389)TGA>TAA	p.*463*	TAF7L_uc004eha.2_Silent_p.*303*	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	463					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1						TGGCTCTCCTCACTTCTTCAG	0.448		NA											16	76					0	0	0	0
RGAG1	57529	broad.mit.edu	37	X	109694739	109694739	+	Silent	SNP	C	C	G			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:109694739C>G	uc004eor.1	+	3	1140	c.894C>G	c.(892-894)CTC>CTG	p.L298L	RGAG1_uc011msr.1_Silent_p.L298L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	298										lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						CTACCCCGCTCATGTCAGATC	0.488		NA											3	115					0	0	0	0
CNGA2	1260	broad.mit.edu	37	X	150911102	150911102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chrX:150911102C>T	uc004fey.1	+	6	801	c.577C>T	c.(577-579)CGA>TGA	p.R193*		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	193	Cytoplasmic (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCATCCGATTGCGCAC	0.502		NA											20	57					0	0	0	0
TCHP	84260	broad.mit.edu	37	12	110345379	110345380	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr12:110345379_110345380insA	uc001tpn.2	+	6	727_728	c.574_575insA	c.(574-576)GAAfs	p.E192fs	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Frame_Shift_Ins_p.E192fs	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	192	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						AAATGAATATGAAAGGGCCCGA	0.51		NA											8	103	---	---	---	---	NA	NA	NA	NA
CASP8	841	broad.mit.edu	37	2	202137479	202137481	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-CV-6943-01A-11D-1912-08	TCGA-CV-6943-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4fa37ade-3451-406d-b0bb-e135e1591b70	64d13ef2-c7a1-4a8c-866b-3b0c513019e5	g.chr2:202137479_202137481delACT	uc002uxr.1	+	5	739_741	c.530_532delACT	c.(529-534)GACTAT>GAT	p.Y178del	CASP8_uc010ftc.1_In_Frame_Del_p.Y178del|CASP8_uc002uxo.1_In_Frame_Del_p.Y178del|CASP8_uc002uxp.1_In_Frame_Del_p.Y210del|CASP8_uc002uxq.1_In_Frame_Del_p.Y178del|CASP8_uc002uxs.1_In_Frame_Del_p.Y178del|CASP8_uc002uxt.1_In_Frame_Del_p.Y237del|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_In_Frame_Del_p.Y75del|CASP8_uc002uxv.1_In_Frame_Del_p.Y178del|CASP8_uc002uxw.1_In_Frame_Del_p.Y178del|CASP8_uc002uxy.1_In_Frame_Del_p.Y178del|CASP8_uc002uxx.1_In_Frame_Del_p.Y178del|CASP8_uc010ftf.2_In_Frame_Del_p.Y178del|CASP8_uc010fte.1_In_Frame_Del_p.Y75del	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	178					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						ATAATCAACGACTATGAAGAATT	0.429		NA								HNSCC(4;0.00038)			28	119	---	---	---	---	NA	NA	NA	NA