Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TFRC	7037	broad.mit.edu	37	3	195791225	195791225	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:195791225G>C	ENST00000360110.4	-	11	1442	c.1273C>G	c.(1273-1275)Ctc>Gtc	p.L425V	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.L425V|TFRC_ENST00000535031.1_Missense_Mutation_p.L143V|TFRC_ENST00000420415.1_Missense_Mutation_p.L344V	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	425					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TTCAATAGGAGAGCTGTGCCT	0.413000			T	BCL6	NHL								24	58					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724213	49724213	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:49724213C>T	ENST00000449682.2	-	7	1112	c.751G>A	c.(751-753)Gac>Aac	p.D251N	MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.D176N|MST1_ENST00000545762.1_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	237	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAATAGTTGTCGTCCAGACCT	0.622000													4	6					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52937170	52937170	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:52937170C>A	ENST00000354452.3	-	11	1425	c.814G>T	c.(814-816)Gac>Tac	p.D272Y	TCF4_ENST00000561831.3_Missense_Mutation_p.D112Y|TCF4_ENST00000566286.1_Missense_Mutation_p.D270Y|TCF4_ENST00000567880.1_Missense_Mutation_p.D212Y|TCF4_ENST00000398339.1_Missense_Mutation_p.D374Y|TCF4_ENST00000565018.2_Missense_Mutation_p.D272Y|TCF4_ENST00000537856.3_Missense_Mutation_p.D142Y|TCF4_ENST00000543082.1_Missense_Mutation_p.D230Y|TCF4_ENST00000540999.1_Missense_Mutation_p.D248Y|TCF4_ENST00000568673.1_Missense_Mutation_p.D248Y|TCF4_ENST00000564403.2_Missense_Mutation_p.D278Y|TCF4_ENST00000570287.2_Missense_Mutation_p.D112Y|TCF4_ENST00000544241.2_Missense_Mutation_p.D201Y|TCF4_ENST00000564228.1_Missense_Mutation_p.D201Y|TCF4_ENST00000570177.2_Missense_Mutation_p.D142Y|TCF4_ENST00000564999.1_Missense_Mutation_p.D272Y|TCF4_ENST00000537578.1_Missense_Mutation_p.D248Y|TCF4_ENST00000568740.1_Missense_Mutation_p.D247Y|TCF4_ENST00000356073.4_Missense_Mutation_p.D272Y|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Missense_Mutation_p.D212Y|TCF4_ENST00000561992.1_Missense_Mutation_p.D142Y|TCF4_ENST00000457482.3_Missense_Mutation_p.D112Y	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	272					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAATTGATGTCTGCTGAGGAG	0.433000													20	63					1.50039e-11	1.60929e-11	1	1	0
SAP30BP	29115	broad.mit.edu	37	17	73663532	73663532	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:73663532G>C	ENST00000584667.1	+	1	337	c.80G>C	c.(79-81)gGa>gCa	p.G27A	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.G27A	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	27					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGAGGCTGGAATCGAGGCG	0.627000													6	31					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583708	35583708	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:35583708C>T	ENST00000287272.2	+	9	1155	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	UNC5D_ENST00000404895.2_Silent_p.L448L|UNC5D_ENST00000420357.1_Silent_p.L381L|UNC5D_ENST00000416672.1_Silent_p.L453L|UNC5D_ENST00000449677.1_Silent_p.L24L|UNC5D_ENST00000453357.2_Silent_p.L443L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	448					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCAGCCAGATCTGACAGTGAG	0.488000													8	50					0	0	1	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906744	32906744	+	Splice_Site	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:32906744T>C	ENST00000416244.2	-	2	250		c.e2-2		XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000418107.2_Splice_Site			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CGAAGCCACCTAGAGGAGCCA	0.403000													10	48					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7437293	7437293	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:7437293G>C	ENST00000318881.6	+	4	1302	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	355	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATCTGGGAGAGCTGATGTTTT	0.468000													16	49					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196198834	196198834	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:196198834C>G	ENST00000318037.3	-	6	2166	c.1572G>C	c.(1570-1572)aaG>aaC	p.K524N		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	524					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		TCAACTGCATCTTTAAAGACA	0.418000													147	159					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236190	26236190	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:26236190C>G	ENST00000354667.4	-	6	768	c.600G>C	c.(598-600)agG>agC	p.R200S	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R188S	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	200					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CTCTTCCACTCCTAGAACTCT	0.368000			T	ETV1	prostate								47	144					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091295	74091295	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091295G>A	ENST00000443185.2	-	4	3092	c.2775C>T	c.(2773-2775)ttC>ttT	p.F925F	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGCTCCTGCTGAAGCCCCCGC	0.726000													6	39					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	449888	449888	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:449888G>C	ENST00000432829.2	+	45	6034	c.5718G>C	c.(5716-5718)caG>caC	p.Q1906H	DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1874H|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1974H|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q1441H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1974					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)		AGATGCTTCAGATGGTGCTGC	0.458000													23	38					0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6150528	6150528	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:6150528G>A	ENST00000164247.1	+	10	1059	c.495G>A	c.(493-495)ccG>ccA	p.P165P	KCNAB2_ENST00000458166.2_Silent_p.P98P|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Silent_p.P165P|KCNAB2_ENST00000378083.3_Silent_p.P198P|KCNAB2_ENST00000378092.1_Silent_p.P151P|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Silent_p.P151P|KCNAB2_ENST00000341524.1_Silent_p.P165P|KCNAB2_ENST00000378097.1_Silent_p.P165P	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	165						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CCAACACCCCGATGGAAGGTA	0.667000													4	12					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21299711	21299711	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:21299711G>C	ENST00000596143.1	+	5	566	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ATGTGAACATGAGAATTTACA	0.383000													8	20					0	0	1	0	0
ZNF219	51222	broad.mit.edu	37	14	21560084	21560084	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:21560084C>T	ENST00000360947.3	-	3	1783	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	ZNF219_ENST00000451119.2_Missense_Mutation_p.E458K|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.E458K	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	458					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CCCGGTCCCTCACCCGGGCGC	0.701000													4	13					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													4	63					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954872	33954872	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:33954872T>C	ENST00000389232.4	+	35	5211	c.5141T>C	c.(5140-5142)gTa>gCa	p.V1714A	RYR3_ENST00000415757.3_Missense_Mutation_p.V1714A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1714	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGAGACCCTGTAGGGGGGTCT	0.567000													12	35					0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634744	79634744	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:79634744G>A	ENST00000376708.1	+	1	174	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	58					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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 activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						AGCGCTGGCAGAACAGCCTGC	0.612000													9	26					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610576	10610576	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:10610576G>A	ENST00000171111.5	-	2	681	c.134C>T	c.(133-135)tCc>tTc	p.S45F	KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCCATGCTGGGAGGGCGTCAC	0.637000													27	48					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27508685	27508685	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:27508685C>T	ENST00000396271.3	-	6	718	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.E89K|ACBD5_ENST00000375905.4_Missense_Mutation_p.E163K|ACBD5_ENST00000375888.1_Missense_Mutation_p.E207K|ACBD5_ENST00000375901.1_Missense_Mutation_p.E89K	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	207					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TTCACTTCTTCTTGGGCCTCT	0.398000													7	76					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422337	64422337	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:64422337C>G	ENST00000262043.3	+	16	5193	c.4853C>G	c.(4852-4854)tCt>tGt	p.S1618C	PHF3_ENST00000393387.1_Missense_Mutation_p.S1618C			Q92576	PHF3_HUMAN	PHD finger protein 3	1618					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CCATGCAGATCTAATGTAGGA	0.373000													12	39					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39914374	39914374	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:39914374G>C	ENST00000564288.1	+	84	20974	c.20197G>C	c.(20197-20199)Gac>Cac	p.D6733H	MACF1_ENST00000317713.7_Missense_Mutation_p.D4674H|MACF1_ENST00000289893.4_Missense_Mutation_p.D5176H|MACF1_ENST00000361689.2_Missense_Mutation_p.D4674H|MACF1_ENST00000567887.1_Missense_Mutation_p.D6770H|MACF1_ENST00000545844.1_Missense_Mutation_p.D4674H|MACF1_ENST00000539005.1_Missense_Mutation_p.D4544H|MACF1_ENST00000372915.3_Missense_Mutation_p.D6632H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6740					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGAAACTTGACAATTTCCT	0.473000													18	55					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42282494	42282494	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:42282494G>A	ENST00000294964.5	+	5	1363	c.1183G>A	c.(1183-1185)Ggg>Agg	p.G395R	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	395	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GTACCGGAGCGGGCAGTATCT	0.622000													5	22					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325598	12325598	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:12325598C>T	ENST00000317702.5	+	4	1044	c.810C>T	c.(808-810)ttC>ttT	p.F270F	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	270					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		TGCCTGGCTTCGCGCCGCTCA	0.682000													19	31					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44144948	44144948	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:44144948C>A	ENST00000262419.6	-	5	2089	c.1619G>T	c.(1618-1620)gGa>gTa	p.G540V	KANSL1_ENST00000572904.1_Missense_Mutation_p.G540V|KANSL1_ENST00000575318.1_Missense_Mutation_p.G540V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G540V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G540V	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	540						MLL1 complex	protein binding										TCTGAGTGCTCCACATGATTT	0.393000													9	36					0.000673444	0.000688985	1	1	0
CEP97	79598	broad.mit.edu	37	3	101484366	101484366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:101484366C>T	ENST00000341893.3	+	11	3321	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	CEP97_ENST00000327230.4_Nonsense_Mutation_p.Q883*|CEP97_ENST00000494050.1_Nonsense_Mutation_p.Q798*			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	857						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCTACATTTCAGCTATTGCA	0.378000													38	71					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570814	102570814	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:102570814C>T	ENST00000251808.3	+	4	790	c.452C>T	c.(451-453)cCg>cTg	p.P151L	GRHL2_ENST00000395927.1_Missense_Mutation_p.P135L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	151						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GCCATCATCCCGGTGTCGGGA	0.532000													28	61					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18333084	18333084	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:18333084G>C	ENST00000355502.3	-	6	1163	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	PDE4C_ENST00000594465.3_Missense_Mutation_p.Q98E|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q66E|PDE4C_ENST00000447275.3_5'UTR|PDE4C_ENST00000594617.3_Missense_Mutation_p.Q98E			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	98					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCTGGACTGAGGGTCCAGG	0.612000													12	15					0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39328285	39328285	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:39328285C>T	ENST00000221419.5	-	11	1930	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	AC104534.3_ENST00000594769.1_Silent_p.A138A|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D389N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	522					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCAGCTCATCGCAGATCTGC	0.498000													5	14					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93563473	93563473	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:93563473G>C	ENST00000394196.4	+	38	6206	c.5138G>C	c.(5137-5139)aGa>aCa	p.R1713T	CHD2_ENST00000557381.1_Missense_Mutation_p.R1713T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1713					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CGGGGACACAGAGATTATTAT	0.493000													12	29					0	0	1	0	0
PLCD3	113026	broad.mit.edu	37	17	43195727	43195727	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:43195727G>C	ENST00000322765.5	-	6	1159	c.1046C>G	c.(1045-1047)tCt>tGt	p.S349C	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	349	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GTGGGAGGAAGAGATGAAGTA	0.572000													17	24					0	0	1	0	0
CD83	9308	broad.mit.edu	37	6	14131771	14131771	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:14131771G>C	ENST00000379153.3	+	3	345	c.174G>C	c.(172-174)gaG>gaC	p.E58D		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GTGGTGAAGAGAGGATGGAGA	0.512000													11	32					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151079548	151079548	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:151079548G>C	ENST00000368918.3	+	7	1103	c.772G>C	c.(772-774)Gac>Cac	p.D258H	GABPB2_ENST00000368916.1_Missense_Mutation_p.D220H|GABPB2_ENST00000368917.1_Missense_Mutation_p.D220H|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	258					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AAATTCCGTTGACTCATCAAT	0.393000													14	29					0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101823405	101823405	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:101823405G>A	ENST00000370418.3	-	5	1088	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	279	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCCCATTGGTGATGCCATCTG	0.493000													6	43					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733513	152733513	+	Silent	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:152733513G>T	ENST00000368773.1	+	2	1507	c.1449G>T	c.(1447-1449)gcG>gcT	p.A483A	KPRP_ENST00000606109.1_Silent_p.A483A	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	483	Pro-rich.					cytoplasm		p.A483A(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGCCGGCGCCCTGCCCAA	0.657000													13	61					9.31168e-06	9.63777e-06	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579768	44579768	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:44579768C>G	ENST00000289547.4	-	2	283	c.228G>C	c.(226-228)aaG>aaC	p.K76N	NPC1L1_ENST00000381160.3_Missense_Mutation_p.K76N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K76N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K76N	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	76					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GGGGGCAGATCTTCTGTAATA	0.597000													12	20					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880886	70880886	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:70880886G>A	ENST00000333538.5	+	4	1235	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	201	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGAGCTGAAGGTCCCCCTAGA	0.498000													7	23					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43344950	43344950	+	RNA	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:43344950G>C	ENST00000344686.2	-	0	2254				MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TCTGGTGGGAGAGGAGGCTGG	0.637000													4	30					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57995323	57995323	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:57995323C>G	ENST00000354947.5	+	10	1216	c.1200C>G	c.(1198-1200)atC>atG	p.I400M	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.I382M|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.I352M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.I400M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	400	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GGGCAGAGATCTCTACTGTCC	0.532000													31	51					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151162973	151162973	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:151162973C>T	ENST00000282466.3	-	4	4795	c.4796G>A	c.(4795-4797)gGc>gAc	p.G1599D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1599					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCGGACAGGCCTGTAGTAGC	0.443000													39	99					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34583058	34583058	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:34583058G>A	ENST00000373973.3	+	8	1127	c.954G>A	c.(952-954)ctG>ctA	p.L318L	CNBD2_ENST00000349339.1_Silent_p.L318L|CNBD2_ENST00000538900.1_Silent_p.L318L					cyclic nucleotide binding domain containing 2																		GCAGACCTCTGAAGACCCACC	0.592000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	27					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	90					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43429035	43429035	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:43429035C>G	ENST00000039989.4	+	15	1986	c.1972C>G	c.(1972-1974)Ctt>Gtt	p.L658V	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.L658V	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	658							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGATGTTCCTCTTGTCAACTT	0.443000													13	19					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310189	25310189	+	RNA	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:25310189C>G	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							ATGATGAGTCCTCCAAAAAAA	0.483000													9	87					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122627250	122627250	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:122627250G>A	ENST00000303924.4	-	4	1295	c.758C>T	c.(757-759)tCa>tTa	p.S253L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	253						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGAGGAATGAGATCCAGGA	0.388000													22	49					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830026	43830026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:43830026C>T	ENST00000372458.3	-	7	704	c.587G>A	c.(586-588)tGg>tAg	p.W196*	ELOVL1_ENST00000413844.2_Nonsense_Mutation_p.W169*|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	196					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTTTTCCACCAAAGGTAGGG	0.502000													20	128					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33439190	33439190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:33439190G>A	ENST00000305768.5	-	5	665	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	CEP89_ENST00000590597.2_Nonsense_Mutation_p.Q193*	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa							centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTGTCCGCTGTGGTGCAGGA	0.328000													7	15					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148745677	148745677	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:148745677G>A	ENST00000514349.1	+	3	952	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A215T			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	215					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGCGGGCCAGCTATGG	0.602000													12	14					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137902694	137902694	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:137902694C>G	ENST00000297185.3	-	8	1000	c.875G>C	c.(874-876)aGa>aCa	p.R292T		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	292					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTCACCTCTCTCTTGAACTC	0.423000													24	110					0	0	1	0	0
FGF8	2253	broad.mit.edu	37	10	103530308	103530308	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:103530308C>T	ENST00000347978.2	-	5	595	c.426G>A	c.(424-426)caG>caA	p.Q142Q	FGF8_ENST00000320185.2_Silent_p.Q171Q|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.Q131Q|FGF8_ENST00000344255.3_Silent_p.Q160Q	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	160					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTTGGCATTCTGCAGCGCTG	0.602000													12	29					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184026668	184026668	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:184026668A>G	ENST00000310118.4	+	21	3275	c.2717A>G	c.(2716-2718)tAt>tGt	p.Y906C	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.Y747C|PSMD2_ENST00000439383.1_Missense_Mutation_p.Y776C	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	906				LRKNPNYDL -> FGRTPIMISK (in Ref. 3 and 4).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AACCCCAATTATGATCTCTAA	0.537000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	71					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79734607	79734607	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:79734607C>G	ENST00000338008.5	+	3	2283	c.2103C>G	c.(2101-2103)ttC>ttG	p.F701L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F701L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F701L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	701					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AGGTTAGCTTCAACTCTAATT	0.388000													11	52					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50463995	50463995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:50463995G>A	ENST00000404971.1	-	19	4937	c.3598C>T	c.(3598-3600)Cag>Tag	p.Q1200*	NRXN1_ENST00000401710.1_Nonsense_Mutation_p.Q178*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Q1152*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Q1152*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Q1160*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Q1160*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.Q125*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Q1160*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1160	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTTCTTTCTGAACAGTGCTA	0.443000													16	32					0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3781620	3781620	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:3781620C>G	ENST00000310132.6	-	8	1125	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	MATK_ENST00000585778.1_Missense_Mutation_p.E243Q|MATK_ENST00000395040.2_Missense_Mutation_p.E202Q|MATK_ENST00000395045.2_Missense_Mutation_p.E244Q	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	243	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTCTCCCTCTCCGATCTGT	0.557000													13	35					0	0	1	0	0
EAF2	55840	broad.mit.edu	37	3	121591444	121591444	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:121591444C>G	ENST00000273668.2	+	5	616	c.545C>G	c.(544-546)tCc>tGc	p.S182C	EAF2_ENST00000451944.2_Missense_Mutation_p.S182C	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	182	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TCATCAGATTCCAAAAGTTCA	0.363000													34	96					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217915359	217915359	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:217915359G>A	ENST00000366933.4	+	6	493	c.438G>A	c.(436-438)gaG>gaA	p.E146E		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	146						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAGAAGAGAAGAAGGCTA	0.408000													6	25					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	169999206	169999206	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:169999206C>T	ENST00000263816.3	-	71	13371	c.13086G>A	c.(13084-13086)ggG>ggA	p.G4362G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4362	EGF-like 16.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGTGGTGCTCCCCTCTATAA	0.572000													9	43					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75933907	75933907	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr13:75933907G>C	ENST00000377636.3	-	3	1514	c.1168C>G	c.(1168-1170)Cag>Gag	p.Q390E	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Q390E|TBC1D4_ENST00000377625.2_Missense_Mutation_p.Q390E	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	390	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATACATACCTGAGAACAAGAG	0.313000													13	15					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50130617	50130617	+	RNA	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:50130617C>G	ENST00000376025.2	-	0	2112							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTTACAATATCAACCACAAAA	0.388000													4	12					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51507277	51507277	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:51507277C>G	ENST00000396402.1	-	8	1164	c.1011G>C	c.(1009-1011)caG>caC	p.Q337H	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.Q337H|CYP19A1_ENST00000260433.2_Missense_Mutation_p.Q337H|CYP19A1_ENST00000559878.1_Missense_Mutation_p.Q337H	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	337					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CAATAACAGTCTGGATTTCCT	0.333000													6	18					0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234235785	234235785	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:234235785G>C	ENST00000409110.1	+	7	684	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	SAG_ENST00000449594.2_Missense_Mutation_p.E18Q	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	152					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GGTTGACTTTGAGGTCAAAGC	0.592000													14	58					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154284173	154284173	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:154284173C>A	ENST00000285873.7	-	18	2601	c.2526G>T	c.(2524-2526)aaG>aaT	p.K842N		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	842					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGCTTTTCTCTTCTTGATTA	0.403000													10	41					1.08611e-07	1.13296e-07	1	1	0
YPEL1	29799	broad.mit.edu	37	22	22064977	22064977	+	Silent	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr22:22064977T>C	ENST00000339468.3	-	2	440	c.57A>G	c.(55-57)cgA>cgG	p.R19R	YPEL1_ENST00000403503.1_Silent_p.R19R	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	19						nucleus				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					AGCTGTACGTTCGGTGACAGT	0.493000													66	194					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12476781	12476781	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:12476781G>A	ENST00000358136.3	+	65	12364	c.12234G>A	c.(12232-12234)ttG>ttA	p.L4078L	VPS13D_ENST00000356315.4_Silent_p.L4053L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Silent_p.L76L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4077					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGGCTTTTGAATGATGTTT	0.468000													15	59					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174261	51174261	+	Silent	SNP	G	G	A	rs143548629		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:51174261G>A	ENST00000440970.1	-	2	2012	c.1581C>T	c.(1579-1581)agC>agT	p.S527S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.S624S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	624					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACTCTCTTCGCTTTTGCCAC	0.642000													11	26					0	0	1	0	0
UNC45A	55898	broad.mit.edu	37	15	91496789	91496789	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:91496789C>T	ENST00000394275.2	+	23	3468	c.2633C>T	c.(2632-2634)tCg>tTg	p.S878L	AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Missense_Mutation_p.S893L	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	893					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGGAGGCCTCGAGGGAGATT	0.602000													32	75					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091033	74091033	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091033G>C	ENST00000443185.2	-	4	3354	c.3037C>G	c.(3037-3039)Ctg>Gtg	p.L1013V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1013					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CAGGTGGCCAGAGTCCTCAGC	0.716000													4	27					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43829601	43829601	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr21:43829601C>T	ENST00000319294.6	+	3	269	c.238C>T	c.(238-240)Cca>Tca	p.P80S	UBASH3A_ENST00000291535.6_Missense_Mutation_p.P80S|UBASH3A_ENST00000450356.1_Missense_Mutation_p.P80S|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P80S	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	80						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTTCCTCTGTCCAACGGGGCC	0.552000													11	68					0	0	1	0	0
CHMP4B	128866	broad.mit.edu	37	20	32438816	32438816	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:32438816G>A	ENST00000217402.2	+	3	592	c.427G>A	c.(427-429)Gag>Aag	p.E143K		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	143					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						AGAACTTGCAGAGGAGATTTC	0.413000													19	53					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61778138	61778138	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:61778138G>A	ENST00000423902.2	+	38	9119	c.8640G>A	c.(8638-8640)ccG>ccA	p.P2880P	CHD7_ENST00000524602.1_Silent_p.P831P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2880			P -> L (in IHH).		central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTACTGCCCCGGCTGGATTGC	0.537000													8	54					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129247849	129247849	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:129247849C>T	ENST00000296271.3	+	1	367	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	91					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TAGGTGGCTTCACCAGCACCC	0.587000													33	66					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113266187	113266187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:113266187C>T	ENST00000389385.4	+	3	561	c.64C>T	c.(64-66)Caa>Taa	p.Q22*	RPH3A_ENST00000447659.2_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000420983.2_Nonsense_Mutation_p.Q22*	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	22					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCGGCCCCTTCAATCAAAGTA	0.448000													14	51					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42917105	42917105	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:42917105G>A	ENST00000316161.4	-	1	528	c.204C>T	c.(202-204)ttC>ttT	p.F68F	RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.F68F	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	68					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GCTGCACTGTGAACACATCCC	0.527000													9	32					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109793200	109793200	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:109793200C>G	ENST00000271332.3	+	1	560	c.499C>G	c.(499-501)Ctg>Gtg	p.L167V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	167					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGAAGAGTCCCTGGGTGGGCG	0.642000													15	19					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569553	51569553	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:51569553G>A	ENST00000522124.1	+	14	1595	c.934G>A	c.(934-936)Ggc>Agc	p.G312S	SNTG1_ENST00000517473.1_Missense_Mutation_p.G312S|SNTG1_ENST00000276467.5_Missense_Mutation_p.G312S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G312S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	312	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGCCCTGAGGGGCTCATGTCT	0.488000													13	70					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138269679	138269679	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:138269679C>T	ENST00000343526.4	+	19	3351	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	TRIM24_ENST00000415680.2_Missense_Mutation_p.R1012C			O15164	TIF1A_HUMAN	tripartite motif containing 24	1046					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CATTGAAGAACGCCAGTTGCT	0.343000													13	49					0	0	1	0	0
SLC19A3	80704	broad.mit.edu	37	2	228552263	228552263	+	Silent	SNP	T	T	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:228552263T>A	ENST00000258403.3	-	6	1412	c.1341A>T	c.(1339-1341)gcA>gcT	p.A447A	SLC19A3_ENST00000541617.1_Silent_p.A443A|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	447					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.A447A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CAGCAATTACTGCAAAATAGC	0.353000													8	40					0	0	1	0	0
PFN3	345456	broad.mit.edu	37	5	176827232	176827232	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:176827232C>T	ENST00000358571.2	-	1	405	c.346G>A	c.(346-348)Gta>Ata	p.V116I		NM_001029886.2	NP_001025057.1	P60673	PROF3_HUMAN	profilin 3	116					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCCATGTACGCCGCGTCGG	0.726000													4	19					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091117	74091117	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091117G>A	ENST00000443185.2	-	4	3270	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGGAGGTGGACCCTGAGGC	0.657000													7	33					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124838695	124838695	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:124838695G>A	ENST00000356219.3	-	28	3813	c.3658C>T	c.(3658-3660)Ccc>Tcc	p.P1220S	NCOR2_ENST00000405201.1_Missense_Mutation_p.P1213S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P774S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1203S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1203S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1204S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1221					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTGTGCTGGGAATGCCTTTG	0.642000													5	2					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32409378	32409378	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:32409378G>C	ENST00000282587.5	+	5	292	c.255G>C	c.(253-255)ttG>ttC	p.L85F	SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L125F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L85F|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L56F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L11F	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	85						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGGTAACATTGAGGAAACCTA	0.259000													9	18					0	0	1	0	0
MEPCE	56257	broad.mit.edu	37	7	100028723	100028723	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:100028723G>A	ENST00000310512.2	+	1	1470	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	361							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCTCCCGACATCGCAAA	0.637000													26	107					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166616039	166616039	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:166616039T>C	ENST00000392701.3	-	5	1655	c.880A>G	c.(880-882)Ata>Gta	p.I294V	GALNT3_ENST00000409882.1_Missense_Mutation_p.I32V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	294					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTCTCAGCTATTCTGGCCAAC	0.368000													6	25					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61078764	61078764	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:61078764C>G	ENST00000238497.5	-	2	278	c.75G>C	c.(73-75)ggG>ggC	p.G25G	VPS4B_ENST00000591519.1_Silent_p.G25G	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	25	MIT.				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CTTCGTAGTTCCCAGCCTTGT	0.383000													8	42					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975863	44975863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:44975863C>A	ENST00000340446.4	-	1	619	c.328G>T	c.(328-330)Gag>Tag	p.E110*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	110						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACACTCTCTGGCAATTCA	0.418000													59	95					6.60958e-23	7.20552e-23	1	1	0
PRRC2A	7916	broad.mit.edu	37	6	31590590	31590590	+	Silent	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:31590590T>C	ENST00000376033.2	+	2	258	c.24T>C	c.(22-24)acT>acC	p.T8T	PRRC2A_ENST00000376007.4_Silent_p.T8T|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	8						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CGGGGCCGACTGCCAAGGGAA	0.552000													19	145					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	515727	515727	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:515727G>A	ENST00000453061.2	+	8	1717	c.1611G>A	c.(1609-1611)agG>agA	p.R537R	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000504346.1_Silent_p.R448R|PIGG_ENST00000509768.1_Silent_p.R448R|PIGG_ENST00000310340.5_Silent_p.R529R|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000383028.4_Silent_p.R404R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	537					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						ACACCCCAAGGAAGGTACGTA	0.562000													4	15					0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91269806	91269806	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:91269806C>G	ENST00000369329.3	-	5	632	c.471G>C	c.(469-471)ctG>ctC	p.L157L	MAP3K7_ENST00000369332.3_Silent_p.L157L|MAP3K7_ENST00000369327.3_Silent_p.L157L|MAP3K7_ENST00000369325.3_Silent_p.L157L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	157	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTGGTGGTTTCAGGTCCCTGT	0.473000													11	37					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69328165	69328165	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:69328165C>T	ENST00000260364.5	+	8	1324	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	NOX5_ENST00000388866.3_Silent_p.G359G|NOX5_ENST00000530406.2_Silent_p.G331G|NOX5_ENST00000455873.3_Silent_p.G324G|NOX5_ENST00000448182.3_Silent_p.G313G			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	359	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGAGGCCTGGCATTGGCTGGG	0.607000													28	61					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448278	39448278	+	Silent	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:39448278G>T	ENST00000257408.4	+	4	2029	c.1932G>T	c.(1930-1932)ccG>ccT	p.P644P		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	644	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGTATTATCCGACCCACGCCC	0.647000													23	27					7.87624e-14	8.48211e-14	1	1	0
POLI	11201	broad.mit.edu	37	18	51813712	51813712	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:51813712G>C	ENST00000579534.1	+	8	1272	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	POLI_ENST00000406285.3_Missense_Mutation_p.E298Q|POLI_ENST00000579434.1_Missense_Mutation_p.E274Q|POLI_ENST00000217800.5_Missense_Mutation_p.E251Q|POLI_ENST00000582366.1_3'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	377	DNA binding.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTATTCCTCTGAGAAGCACTA	0.388000								DNA polymerases (catalytic subunits)					4	9					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451167	155451167	+	Silent	SNP	C	C	T	rs140507023	byFrequency	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:155451167C>T	ENST00000461783.3	+	6	2083	c.810C>T	c.(808-810)ccC>ccT	p.P270P	TIAM2_ENST00000318981.5_Silent_p.P270P|TIAM2_ENST00000529824.2_Silent_p.P270P|TIAM2_ENST00000456144.1_Silent_p.P270P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.P270P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	270					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCTGGCCCCCGGCATGCCTG	0.607000													22	36					0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789561	8789561	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:8789561C>A	ENST00000447110.1	-	14	2237	c.2113G>T	c.(2113-2115)Gcc>Tcc	p.A705S	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A705S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A704S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	705	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCCTTGATGGCACGTGTGGCA	0.612000													6	17					0.248553	0.24949	1	1	0
TAGAP	117289	broad.mit.edu	37	6	159457377	159457377	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:159457377C>T	ENST00000367066.3	-	10	2009	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E382K|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	560					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTGGGTTTCACACCCATTT	0.607000													15	73					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				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	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			6	15					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214831	3214831	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:3214831G>A	ENST00000380059.3	-	5	651	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	SLC4A11_ENST00000380056.3_Missense_Mutation_p.R157C|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R141C	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	157					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCGAAGCGGCGAAGCATGGTC	0.637000													13	53					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2673303	2673303	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:2673303G>A	ENST00000320876.6	+	4	786	c.448G>A	c.(448-450)Gac>Aac	p.D150N	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D150N	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	150					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGAATTAATTGACAATTCATT	0.323000													5	15					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139751849	139751849	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:139751849G>A	ENST00000230993.6	+	20	2800	c.2765G>A	c.(2764-2766)cGa>cAa	p.R922Q	CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R884Q|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R922Q|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R835Q|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R898Q	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	922	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTCCGAAAGGCCCTG	0.542000													11	9					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127335797	127335797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:127335797G>T	ENST00000265056.7	+	10	1853	c.1609G>T	c.(1609-1611)Gag>Tag	p.E537*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	537	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CAAGTATATTGAGAAAGTGTC	0.597000													39	72					1.49673e-21	1.62502e-21	1	1	0
ZNF821	55565	broad.mit.edu	37	16	71898823	71898823	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:71898823C>T	ENST00000425432.1	-	5	674	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ZNF821_ENST00000564134.1_Missense_Mutation_p.E99K|ZNF821_ENST00000446827.2_Missense_Mutation_p.E57K|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000565601.1_Missense_Mutation_p.E99K|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.E57K	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TCTACCACTTCGTTCCCACCA	0.547000													12	58					0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687484	16687484	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:16687484G>A	ENST00000263390.3	-	3	1419	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.S394L	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	386					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CGAGCCCCCTGAGGAGGCAGC	0.647000													9	16					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	422131	422131	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:422131G>T	ENST00000432829.2	+	33	4349	c.4033G>T	c.(4033-4035)Gat>Tat	p.D1345Y	DOCK8_ENST00000469391.1_Missense_Mutation_p.D1313Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.D1413Y|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.D880Y	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1413	DHR-2.				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)		TGAGAAGCTAGATAAGTGAGT	0.418000													18	18					5.35267e-07	5.56176e-07	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118183350	118183350	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:118183350C>T	ENST00000427715.2	+	10	1194	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	SLC30A8_ENST00000456015.2_Silent_p.L303L|SLC30A8_ENST00000521243.1_Silent_p.L254L|SLC30A8_ENST00000519688.1_Silent_p.L254L	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	303					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTGCACAGCCTGCACATCTG	0.453000													15	66					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409115	4409115	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:4409115G>A	ENST00000301280.5	+	3	420	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	107	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.E107K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATAGAATCGAAACCAGTAT	0.423000								Chromatin Structure					18	88					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959465	75959465	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:75959465G>C	ENST00000307630.3	-	2	395	c.173C>G	c.(172-174)tCt>tGt	p.S58C		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	58					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CCTCCAGGAAGAGCGGCGTGC	0.532000													38	52					0	0	1	0	0
C12orf71	728858	broad.mit.edu	37	12	27234163	27234163	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:27234163G>A	ENST00000429849.2	-	2	784	c.754C>T	c.(754-756)Cac>Tac	p.H252Y		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	252										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TTGCCTCTGTGAAAGAGTCTT	0.438000													3	40					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4745075	4745075	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:4745075C>G	ENST00000304301.6	+	3	564	c.531C>G	c.(529-531)ctC>ctG	p.L177L	NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000405142.1_3'UTR	NM_032349.3	NP_115725.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	177	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TCTTTGCCCTCAAGGTGCTCA	0.617000													25	39					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10687928	10687928	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:10687928G>A	ENST00000590923.1	-	9	1082	c.999C>T	c.(997-999)agC>agT	p.S333S	AP1M2_ENST00000250244.6_Silent_p.S331S			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	331	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CATACTTGGCGCTGCCCACAC	0.567000													9	10					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80881568	80881568	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:80881568G>C	ENST00000424347.2	+	15	2297	c.2008G>C	c.(2008-2010)Gag>Cag	p.E670Q	CEP78_ENST00000277082.5_Missense_Mutation_p.E670Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E686Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E671Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E687Q			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	670					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGAAAAGAAGAGGAGTTGTC	0.428000													6	15					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339422	116339422	+	Missense_Mutation	SNP	G	G	T	rs66652208		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:116339422G>T	ENST00000397752.3	+	2	484	c.284G>T	c.(283-285)tGt>tTt	p.C95F	MET_ENST00000318493.6_Missense_Mutation_p.C95F|MET_ENST00000436117.2_Missense_Mutation_p.C95F	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	95	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACCCAGATTGTTTCCCATGT	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	64					4.96729e-08	5.20197e-08	1	1	0
HTR4	3360	broad.mit.edu	37	5	147889125	147889125	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:147889125G>A	ENST00000360693.3	-	6	1108	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	HTR4_ENST00000517929.1_Missense_Mutation_p.L324F|HTR4_ENST00000314512.6_Missense_Mutation_p.L324F|HTR4_ENST00000521735.1_Missense_Mutation_p.L324F|HTR4_ENST00000354217.2_Missense_Mutation_p.L324F|HTR4_ENST00000377888.3_Missense_Mutation_p.L324F|HTR4_ENST00000521530.1_Missense_Mutation_p.L324F|HTR4_ENST00000520514.1_Missense_Mutation_p.L324F|HTR4_ENST00000362016.2_Missense_Mutation_p.L338F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	324					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	AGGATGATGAGGAAGGCACGT	0.493000													11	26					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106843966	106843966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:106843966G>A	ENST00000347053.3	-	21	2565	c.2515C>T	c.(2515-2517)Cag>Tag	p.Q839*	COG5_ENST00000297135.3_Nonsense_Mutation_p.Q860*	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	839					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TGTCATTACTGAAGAGCAGAC	0.383000													15	38					0	0	1	0	0
MRPL17	63875	broad.mit.edu	37	11	6704519	6704519	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:6704519C>T	ENST00000288937.6	-	1	113	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	3					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCGACCGACAGCCGCATGT	0.622000											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	4					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202531973	202531973	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:202531973C>T	ENST00000608999.1	+	20	2728	c.2575C>T	c.(2575-2577)Cgt>Tgt	p.R859C	PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R85C|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R85C|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R859C	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCAAGAGCCCGTCGGGAGGC	0.483000													43	65					0	0	1	0	0
C3orf70	285382	broad.mit.edu	37	3	184870586	184870586	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:184870586G>A	ENST00000335012.2	-	1	216	c.26C>T	c.(25-27)tCg>tTg	p.S9L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	9										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACCCCGCTCCGACGCCGGCGA	0.711000													5	16					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42866199	42866199	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:42866199C>G	ENST00000455697.1	-	2	405	c.120G>C	c.(118-120)ctG>ctC	p.L40L	PRICKLE1_ENST00000445766.2_Silent_p.L40L|PRICKLE1_ENST00000345127.3_Silent_p.L40L|PRICKLE1_ENST00000552240.1_Silent_p.L40L|PRICKLE1_ENST00000548696.1_Silent_p.L40L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	40	PET.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCTCTGGTCTCAGGCCCGGGG	0.458000													12	10					0	0	1	0	0
LY6H	4062	broad.mit.edu	37	8	144240221	144240221	+	Splice_Site	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:144240221G>A	ENST00000414417.2	-	4	482	c.249C>T	c.(247-249)agC>agT	p.S83S	LY6H_ENST00000342752.4_Splice_Site_p.S83S|LY6H_ENST00000430474.2_Splice_Site_p.S62S	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	62	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCAACTTACTGCTGCTGGGAT	0.602000													25	59					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33795721	33795721	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:33795721C>T	ENST00000257118.5	-	12	2149	c.2096G>A	c.(2095-2097)cGg>cAg	p.R699Q	PHC2_ENST00000431992.1_Missense_Mutation_p.R670Q|PHC2_ENST00000419414.2_Missense_Mutation_p.R700Q|PHC2_ENST00000373422.3_Missense_Mutation_p.R305Q|PHC2_ENST00000373416.1_Missense_Mutation_p.R164Q|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.R164Q	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	699					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCTGGCCCGACGGCGGTT	0.602000													4	17					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004227	42004227	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:42004227G>A	ENST00000395925.3	-	15	4528	c.4444C>T	c.(4444-4446)Cca>Tca	p.P1482S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1482					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTAGCACCTGGGGAAAGTAAC	0.532000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				22	29					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69954213	69954213	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:69954213G>C	ENST00000358913.5	+	14	3507	c.3019G>C	c.(3019-3021)Gaa>Caa	p.E1007Q	MYPN_ENST00000354393.2_Missense_Mutation_p.E732Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E1007Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1007	Ig-like 3.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCTGCACATTGAATCCACTAC	0.502000													3	26					0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42744939	42744939	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:42744939G>C	ENST00000409122.2	+	5	1802	c.1660G>C	c.(1660-1662)Gaa>Caa	p.E554Q	C17orf104_ENST00000359945.3_Missense_Mutation_p.E554Q|C17orf104_ENST00000409464.1_Missense_Mutation_p.E388Q	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	554										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGTGGTGCAGAAAGAATCCA	0.343000													4	18					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091111	74091111	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091111G>T	ENST00000443185.2	-	4	3276	c.2959C>A	c.(2959-2961)Cct>Act	p.P987T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	987					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCTTTGCAGGAGGTGGACCC	0.672000													5	34					2.7689e-08	2.92272e-08	1	1	0
CASP8	841	broad.mit.edu	37	2	202141669	202141669	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:202141669G>C	ENST00000358485.4	+	7	1153	c.957G>C	c.(955-957)agG>agC	p.R319S	CASP8_ENST00000432109.2_Missense_Mutation_p.R260S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.R277S|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R245S	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	260					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			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTAGGGACAGGAATGGAACAC	0.373000										HNSCC(4;0.00038)			4	33					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042616	75042616	+	Silent	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:75042616G>C	ENST00000343932.4	+	2	600	c.537G>C	c.(535-537)ctG>ctC	p.L179L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	179					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TGCAGGAGCTGATGGCAGGGC	0.582000													12	92					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	32					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153332577	153332577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:153332577G>A	ENST00000281708.4	-	2	1608	c.379C>T	c.(379-381)Cag>Tag	p.Q127*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q127*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q127*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q127*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	127					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCATCAGACTGATCAAAATCG	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	17					0	0	1	0	0
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139092031	139092031	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:139092031G>A	ENST00000354926.4	+	6	976	c.622G>A	c.(622-624)Gat>Aat	p.D208N	LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207N|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205N	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2												p.D208N(1)									ACGACTGGCTGATCATTTTGG	0.398000													10	42					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99885183	99885183	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:99885183C>G	ENST00000327681.6	-	17	2785	c.2253G>C	c.(2251-2253)gtG>gtC	p.V751V	USP45_ENST00000539675.1_Silent_p.V44V|USP45_ENST00000500704.2_Silent_p.V751V|USP45_ENST00000369233.2_Silent_p.V703V|USP45_ENST00000392738.2_Silent_p.V431V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	751					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCTCACTTTCACATAAGCAG	0.383000													23	34					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237349	26237349	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:26237349C>G	ENST00000354667.4	-	3	214	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E4Q	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	16					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGTTCCTTTTCTCTCTGCAAA	0.363000			T	ETV1	prostate								13	35					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482809	71482809	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:71482809G>A	ENST00000393539.2	-	6	1932	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Silent_p.F373F|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.F315F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.F315F|ZNF23_ENST00000417828.1_Silent_p.F373F	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TATTATTATTGAAGCCTTTTC	0.443000													5	24					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349363	36349363	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:36349363C>A	ENST00000360202.5	+	3	463	c.265C>A	c.(265-267)Cac>Aac	p.H89N	KIRREL2_ENST00000262625.7_Missense_Mutation_p.H89N|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.H89N|KIRREL2_ENST00000347900.6_Missense_Mutation_p.H39N	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	89	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCATGACCTCCACATTAGGCC	0.557000													26	27					1.66031e-10	1.77366e-10	1	1	0
PARD3	56288	broad.mit.edu	37	10	34671617	34671617	+	Missense_Mutation	SNP	G	G	C	rs115076370	byFrequency	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:34671617G>C	ENST00000374789.3	-	9	1575	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	PARD3_ENST00000374776.1_Missense_Mutation_p.S417C|PARD3_ENST00000374790.3_Missense_Mutation_p.S373C|PARD3_ENST00000340077.5_Missense_Mutation_p.S417C|PARD3_ENST00000374794.3_Missense_Mutation_p.S373C|PARD3_ENST00000545260.1_Missense_Mutation_p.S373C|PARD3_ENST00000545693.1_Missense_Mutation_p.S417C|PARD3_ENST00000374773.1_Missense_Mutation_p.S417C|PARD3_ENST00000544292.1_Missense_Mutation_p.S147C|PARD3_ENST00000350537.4_Missense_Mutation_p.S417C|PARD3_ENST00000374788.3_Missense_Mutation_p.S417C|PARD3_ENST00000346874.4_Missense_Mutation_p.S417C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	417					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTTGAGTGAGAGTCTATCTG	0.547000													15	65					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96215596	96215596	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:96215596C>T	ENST00000437043.3	+	2	918	c.207C>T	c.(205-207)ctC>ctT	p.L69L	ERAP2_ENST00000510309.1_Silent_p.L69L|ERAP2_ENST00000379904.4_Silent_p.L69L|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	69					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGCTAAGGCTCCCCAGTGTGG	0.502000													6	35					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091081	74091081	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091081G>C	ENST00000443185.2	-	4	3306	c.2989C>G	c.(2989-2991)Cta>Gta	p.L997V	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CGGGGAGGTAGAGGAGGAGCG	0.677000													9	20					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724228	49724228	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:49724228C>G	ENST00000449682.2	-	7	1097	c.736G>C	c.(736-738)Gac>Cac	p.D246H	MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.D171H|MST1_ENST00000545762.1_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	232	Kringle 2.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGACCTTGGTCGAGGAACCTG	0.617000													4	6					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22183799	22183799	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:22183799G>A	ENST00000374695.3	-	43	5452	c.5373C>T	c.(5371-5373)ttC>ttT	p.F1791F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1791	Ig-like C2-type 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTGTGCAGATGAAGGTGACGT	0.632000													28	64					0	0	1	0	0
KLHL21	9903	broad.mit.edu	37	1	6659498	6659498	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:6659498A>T	ENST00000377663.3	-	2	1219	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	KLHL21_ENST00000377658.4_Missense_Mutation_p.S346T|KLHL21_ENST00000467612.1_5'UTR|KLHL21_ENST00000463043.1_5'UTR			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	346					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TAGAGCCGGGAGCCATCGGAC	0.627000													6	13					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240254	3240254	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:3240254G>A	ENST00000217939.6	-	5	3626	c.3472C>T	c.(3472-3474)Cgc>Tgc	p.R1158C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1158						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGTTGGGGCGTAATCTCCTT	0.507000													4	43					0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1867236	1867236	+	Missense_Mutation	SNP	T	T	C	rs144037672		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:1867236T>C	ENST00000397356.3	-	6	984	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	HAGH_ENST00000566709.1_Missense_Mutation_p.Y145C|HAGH_ENST00000397353.2_Missense_Mutation_p.Y145C|HAGH_ENST00000455446.2_Missense_Mutation_p.M157V	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	193	Substrate.				glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	AGTCCCTTCATAGAACTTCCC	0.637000													15	20					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7858656	7858656	+	Missense_Mutation	SNP	A	A	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:7858656A>T	ENST00000377532.3	+	6	940	c.716A>T	c.(715-717)cAt>cTt	p.H239L	PER3_ENST00000377541.1_Missense_Mutation_p.H238L|PER3_ENST00000361923.2_Missense_Mutation_p.H238L			P56645	PER3_HUMAN	period circadian clock 3	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCATGTACATCACCCTGCC	0.453000													7	54					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715193	101715193	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:101715193G>C	ENST00000342239.3	-	4	2129	c.2038C>G	c.(2038-2040)Cat>Gat	p.H680D	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.H680D			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	680					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTTCCCATATGACCAGGGCCC	0.552000													10	23					0	0	1	0	0
C8orf22	492307	broad.mit.edu	37	8	49985442	49985442	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:49985442G>T	ENST00000303202.8	+	2	226	c.53G>T	c.(52-54)cGa>cTa	p.R18L	C8orf22_ENST00000399653.4_Missense_Mutation_p.R18L|C8orf22_ENST00000517663.1_Missense_Mutation_p.R18L|C8orf22_ENST00000522267.1_Missense_Mutation_p.R18L	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22	18										large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAGTATTATCGAAGTAAGTTG	0.413000													14	52					0.000151284	0.000155373	1	1	0
FBXO39	162517	broad.mit.edu	37	17	6683478	6683478	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:6683478G>T	ENST00000321535.4	+	2	421	c.291G>T	c.(289-291)atG>atT	p.M97I		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	97										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCAAATTCATGAATCCTTACA	0.478000													59	42					1.21705e-43	1.33775e-43	1	1	0
OGFOD3	79701	broad.mit.edu	37	17	80367279	80367279	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:80367279C>G	ENST00000313056.5	-	4	539	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	OGFOD3_ENST00000329197.5_Missense_Mutation_p.E130Q	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		AGCCCCTTTTCAGCTACGCTG	0.438000													4	23					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19864727	19864727	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr22:19864727C>T	ENST00000400519.1	-	17	1472	c.1473G>A	c.(1471-1473)cgG>cgA	p.R491R	TXNRD2_ENST00000400521.1_Silent_p.R492R|TXNRD2_ENST00000535882.1_Silent_p.R491R|TXNRD2_ENST00000400518.1_Silent_p.R462R|TXNRD2_ENST00000542719.1_Silent_p.R462R			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	492					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TACCCACGGTCCGCATCACCT	0.657000													20	27					0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24570162	24570162	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:24570162C>T	ENST00000535378.1	-	13	2575	c.1933G>A	c.(1933-1935)Ggc>Agc	p.G645S	KIAA0319_ENST00000537886.1_Missense_Mutation_p.G654S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G654S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G654S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G609S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	654	PKD 4.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAGACAATGCCGTGGTCATCG	0.537000													4	25					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35231800	35231800	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:35231800G>A	ENST00000392232.3	+	6	814	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	ZNF181_ENST00000459757.2_Missense_Mutation_p.E171K|ZNF181_ENST00000492450.1_Missense_Mutation_p.E172K			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TACTCTTTCTGAACCACAAAA	0.338000													32	28					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43500925	43500925	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:43500925G>A	ENST00000300215.3	-	7	1428	c.971C>T	c.(970-972)tCa>tTa	p.S324L	EPB42_ENST00000540029.1_Missense_Mutation_p.S216L|EPB42_ENST00000441366.2_Missense_Mutation_p.S294L			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	294					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCCCTGTGCTGAGGCAAACGT	0.602000													36	41					0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176870	43176870	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr21:43176870C>G	ENST00000352483.2	-	2	353	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	RIPK4_ENST00000332512.3_Missense_Mutation_p.E97Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.E34Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.E34Q			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	97						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCATGTACTCCATGACCAGG	0.567000													21	25					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14761496	14761496	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:14761496G>A	ENST00000261658.2	+	8	1442	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.V264M|BFAR_ENST00000426842.2_Missense_Mutation_p.V261M	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	389					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTTCAGGACCGTGCCTCAGAG	0.547000													9	71					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554975	182554975	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:182554975G>A	ENST00000367559.3	-	2	1220	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	RNASEL_ENST00000444138.1_Missense_Mutation_p.H323Y|RNASEL_ENST00000539397.1_Missense_Mutation_p.H323Y	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	323					mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTGGCTCCATGAGAGAGAAGA	0.522000													11	43					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47290956	47290956	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:47290956G>A	ENST00000542575.2	-	1	895	c.267C>T	c.(265-267)ttC>ttT	p.F89F		NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	89					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CCGGGAAGACGAAGGCGCTCA	0.731000													5	3					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134369698	134369698	+	Silent	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:134369698C>G	ENST00000508956.1	-	1	162	c.105G>C	c.(103-105)gcG>gcC	p.A35A	KY_ENST00000423778.2_Silent_p.A35A|KY_ENST00000503669.1_Silent_p.A35A			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	35						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCTCGGGTTCGCCTGCTGGT	0.672000													8	12					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31854617	31854617	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:31854617C>A	ENST00000395728.3	-	16	2346	c.2347G>T	c.(2347-2349)Gtg>Ttg	p.V783L	EHMT2_ENST00000375537.4_Missense_Mutation_p.V726L|EHMT2_ENST00000375530.4_Missense_Mutation_p.V692L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.V749L			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	726					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTTCACCACGGCCTCCATC	0.642000													56	78					3.74213e-36	4.09632e-36	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		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 kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		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	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	6					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602241	5602241	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:5602241C>G	ENST00000345043.2	+	1	135	c.135C>G	c.(133-135)atC>atG	p.I45M	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTACATATCTGGCTGTCCA	0.517000													19	24					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23863422	23863422	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:23863422G>A	ENST00000405093.3	-	21	2610	c.2540C>T	c.(2539-2541)aCg>aTg	p.T847M	MYH6_ENST00000356287.3_Missense_Mutation_p.T847M	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	847					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCTTCTCCGTCTCTGCGCT	0.562000													12	81					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576852	7576852	+	Splice_Site	SNP	C	C	T	rs11575997		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:7576852C>T	ENST00000420246.2	-	9	1126		c.e9+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(24)|p.0?(8)|p.I332fs*49(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)		AGACTTAGTACCTGAAGGGTG	0.458000		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)			13	18					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67957391	67957391	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:67957391C>T	ENST00000304363.4	-	2	506	c.153G>A	c.(151-153)tcG>tcA	p.S51S	SUV420H1_ENST00000402185.2_Silent_p.S51S|SUV420H1_ENST00000401547.2_Silent_p.S51S|SUV420H1_ENST00000402789.1_Silent_p.S51S|SUV420H1_ENST00000405515.1_Silent_p.S51S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TACATCTGTTCGACCTCCTCT	0.408000													63	98					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135315105	135315105	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:135315105T>G	ENST00000285968.6	+	35	4972	c.4946T>G	c.(4945-4947)cTt>cGt	p.L1649R		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1649					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCAGTTTCTTATTTCACAT	0.333000													11	26					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457801	64457801	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:64457801G>C	ENST00000358025.3	+	21	2844	c.2614G>C	c.(2614-2616)Gag>Cag	p.E872Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E872Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E872Q|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	872					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGCAAAGAGAGAGCCCCGG	0.418000													12	19					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134525605	134525605	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:134525605C>T	ENST00000372195.1	-	3	469	c.226G>A	c.(226-228)Gag>Aag	p.E76K	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E77K|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E59K			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	59					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGGTAGCCCTCTGGTAGAAAT	0.512000													5	20					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149215838	149215838	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:149215838C>T	ENST00000309241.5	+	8	1852	c.1820C>T	c.(1819-1821)cCc>cTc	p.P607L	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P543L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P607L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P568L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	607					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCACCCCACCCACCACACCA	0.532000													27	75					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156625114	156625114	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:156625114A>G	ENST00000296518.7	+	4	495	c.286A>G	c.(286-288)Aca>Gca	p.T96A	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T96A			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	96					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ACTTCAGAGAACATTGGCAAA	0.313000													21	27					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38230505	38230505	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:38230505G>A	ENST00000339503.4	-	8	1213	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	ZNF573_ENST00000590414.2_Missense_Mutation_p.H296Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H208Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H209Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H208Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCATCAGTATGAAACTGCCCA	0.403000													46	34					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169064771	169064771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:169064771G>T	ENST00000354536.5	+	12	1556	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	SMOC2_ENST00000477998.1_3'UTR|SMOC2_ENST00000356284.2_Nonsense_Mutation_p.E435*	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	435					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AGGTCATGCTGAAAGTACGTC	0.299000													8	17					2.80697e-09	2.98662e-09	1	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752310	62752310	+	RNA	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:62752310A>G	ENST00000331425.6	-	0	1125					NR_003952.1																						TCTTGGCCACATTCTTCATAT	0.433000													12	23					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115997247	115997247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:115997247C>A	ENST00000264363.2	-	2	1624	c.946G>T	c.(946-948)Gag>Tag	p.E316*		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	316	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTTGTTCCCTCTTTCCCAACA	0.368000													9	41					2.17888e-05	2.24644e-05	1	1	0
DYNC1LI1	51143	broad.mit.edu	37	3	32587344	32587344	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:32587344C>G	ENST00000273130.4	-	3	437	c.334G>C	c.(334-336)Gat>Cat	p.D112H	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	112					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CACTCACCATCCCTGTCTTCA	0.318000													4	44					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080026	152080026	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:152080026C>T	ENST00000368804.1	-	2	5666	c.5667G>A	c.(5665-5667)caG>caA	p.Q1889Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1889	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCTTCTGCTGGCGGC	0.562000													14	82					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175293868	175293868	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:175293868G>C	ENST00000454872.1	+	10	1821	c.1693G>C	c.(1693-1695)Gaa>Caa	p.E565Q	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	565					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAGTGCCCAGAAACCAATAT	0.383000													19	72					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155912557	155912557	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:155912557G>A	ENST00000368318.3	+	1	1078	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	353						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCGGTGGGTCGCAAGCAACCC	0.647000													15	31					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996912	154996912	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:154996912G>C	ENST00000392825.3	+	4	772	c.205G>C	c.(205-207)Gat>Cat	p.D69H	GALNT13_ENST00000409237.1_Missense_Mutation_p.D69H	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	69						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATTCCTAAAGATGACCAGGA	0.373000													12	23					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29116271	29116271	+	Silent	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:29116271A>G	ENST00000261590.8	+	11	1739	c.1530A>G	c.(1528-1530)gcA>gcG	p.A510A		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	510					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTCACGATGCAGAGTATGTGA	0.468000													11	45					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48807360	48807360	+	Missense_Mutation	SNP	G	G	A	rs113520498		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:48807360G>A	ENST00000315396.7	-	7	1274	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	198										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TTCTCCGCGCGCTCCCGCAGC	0.667000													26	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64457759	64457759	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:64457759G>C	ENST00000358025.3	+	21	2802	c.2572G>C	c.(2572-2574)Gaa>Caa	p.E858Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.E858Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E858Q|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	858					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGGAACTTGAATCATATAT	0.433000													15	21					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22242730	22242730	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:22242730G>A	ENST00000324559.8	+	5	585	c.268G>A	c.(268-270)Gta>Ata	p.V90I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	90						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTTGATGATGTAAAGAAAGA	0.353000													9	11					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1943874	1943874	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:1943874C>G	ENST00000543818.1	+	5	1942	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S367C|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S367C|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	367						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AAGCAGATCTCTTCTGTGGCC	0.662000													8	27					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086232	44086232	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:44086232C>T	ENST00000359947.4	+	31	5686	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	PTPRF_ENST00000372414.3_Silent_p.F1782F|PTPRF_ENST00000438120.1_Silent_p.F1773F|PTPRF_ENST00000422171.2_Silent_p.F1141F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.F1773F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1782	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCGTGAGTTCAAGGTCACGG	0.567000													21	49					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229661685	229661685	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:229661685G>A	ENST00000344517.4	-	10	1946	c.1904C>T	c.(1903-1905)tCa>tTa	p.S635L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	635	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				AAATGCACCTGAGAGGAGAAC	0.423000													74	104					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13756853	13756853	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:13756853C>T	ENST00000202816.1	-	3	808	c.701G>A	c.(700-702)tGt>tAt	p.C234Y		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATCTTTGTCACACATTTCACC	0.368000													42	75					0	0	1	0	0
PCDHGA11	56105	broad.mit.edu	37	5	140801003	140801003	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:140801003G>A	ENST00000398587.2	+	1	242	c.209G>A	c.(208-210)aGa>aAa	p.R70K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R70K|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGTCTCCAGAGGGAAGACA	0.617000													18	49					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699550	67699550	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:67699550T>C	ENST00000545606.1	+	10	2539	c.2102T>C	c.(2101-2103)aTc>aCc	p.I701T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	701					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCACCTCTTATCAGCGAAAGT	0.408000													21	86					0	0	1	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58007841	58007841	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:58007841C>G	ENST00000286494.4	+	6	1055	c.595C>G	c.(595-597)Ctt>Gtt	p.L199V	AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.L238V|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	199	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCCGAGAGTCTTCGAGGCCG	0.557000													29	32					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33044804	33044804	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:33044804C>T	ENST00000242209.4	+	10	1723	c.1554C>T	c.(1552-1554)caC>caT	p.H518H	FKBP9_ENST00000538443.1_Silent_p.H380H|FKBP9_ENST00000538336.1_Silent_p.H571H|FKBP9_ENST00000490776.2_Silent_p.H286H|AVL9_ENST00000404479.1_Intron	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	518	EF-hand 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AGTACATTCACGCCCAGGTGG	0.542000													21	49					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228335209	228335209	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:228335209C>G	ENST00000366718.1	+	5	781	c.354C>G	c.(352-354)atC>atG	p.I118M	GUK1_ENST00000391865.3_Missense_Mutation_p.I139M|GUK1_ENST00000366730.1_Missense_Mutation_p.I118M|GUK1_ENST00000366722.1_Missense_Mutation_p.I118M|GUK1_ENST00000366716.1_Missense_Mutation_p.I118M|GUK1_ENST00000366721.1_Missense_Mutation_p.I120M|GUK1_ENST00000366728.2_Missense_Mutation_p.I139M|GUK1_ENST00000366726.1_Missense_Mutation_p.I118M|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366723.1_Missense_Mutation_p.I139M|GUK1_ENST00000312726.4_Missense_Mutation_p.I118M	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	118	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				TGCGGCCCATCTACATCTCTG	0.657000													14	57					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817462	2817462	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:2817462C>T	ENST00000301740.8	+	11	7482	c.6933C>T	c.(6931-6933)ctC>ctT	p.L2311L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2311	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTGAGTCTCACAGGCTCTG	0.622000													64	162					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414880	121414880	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:121414880C>T	ENST00000393667.3	-	13	4600	c.4490G>A	c.(4489-4491)cGa>cAa	p.R1497Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R1492Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1492					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.R1492Q(1)|p.R1492L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTTCTTTTCGGGAAATAAG	0.418000													30	206					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049034	70049034	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:70049034C>T	ENST00000330891.5	-	10	1886	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	BEST3_ENST00000488961.1_Missense_Mutation_p.E341K|BEST3_ENST00000553096.1_Missense_Mutation_p.E448K|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	554						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCTCCTTCTCTGAGGGAGAC	0.537000													20	43					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131028582	131028582	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr9:131028582G>A	ENST00000421699.2	-	8	596	c.584C>T	c.(583-585)aCg>aTg	p.T195M	GOLGA2_ENST00000609374.1_Missense_Mutation_p.T183M	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	195						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAACTGATCCGTAATTTCTTG	0.502000													17	29					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40376898	40376898	+	Missense_Mutation	SNP	C	C	A	rs138107011	byFrequency	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:40376898C>A	ENST00000221347.6	-	24	11531	c.11524G>T	c.(11524-11526)Ggc>Tgc	p.G3842C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3842	VWFD 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGATACAGCCCGCGCTCCCC	0.667000													3	12					0.004672	0.0047615	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74091357	74091357	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:74091357G>A	ENST00000443185.2	-	4	3030	c.2713C>T	c.(2713-2715)Ctg>Ttg	p.L905L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	905					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCTTGGCCAGGGGCCCCTGT	0.721000													13	35					0	0	1	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8429455	8429455	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:8429455G>A	ENST00000301455.2	+	1	421	c.250G>A	c.(250-252)Gag>Aag	p.E84K	ANGPTL4_ENST00000541807.1_Intron|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.E84K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	84					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCAGGGAACCGAGGGGTCCAC	0.726000													4	3					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44086185	44086185	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:44086185G>C	ENST00000359947.4	+	31	5639	c.5299G>C	c.(5299-5301)Gac>Cac	p.D1767H	PTPRF_ENST00000372414.3_Missense_Mutation_p.D1767H|PTPRF_ENST00000438120.1_Missense_Mutation_p.D1758H|PTPRF_ENST00000422171.2_Missense_Mutation_p.D1126H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D1758H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1767	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTTTGTTGTTGACCCGATGGC	0.557000													17	32					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52248087	52248087	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:52248087C>T	ENST00000394965.2	+	12	2174	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	ALAS1_ENST00000484952.1_Missense_Mutation_p.S605F|ALAS1_ENST00000310271.2_Missense_Mutation_p.S605F|ALAS1_ENST00000469224.1_Missense_Mutation_p.S605F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	605					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGCCTCATTCCTCAGCTGAG	0.438000													8	31					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808062	20808062	+	Silent	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:20808062G>C	ENST00000601440.1	-	4	767	c.621C>G	c.(619-621)ggC>ggG	p.G207G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TAAAGGCTTTGCCACATTCTT	0.368000													23	18					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44887641	44887641	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:44887641G>C	ENST00000261866.7	-	26	4467	c.4451C>G	c.(4450-4452)tCt>tGt	p.S1484C	SPG11_ENST00000427534.2_Missense_Mutation_p.S1484C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1484C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1484C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1484					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAGAGACAAGAAATGGCACT	0.438000													15	33					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143846	61143846	+	RNA	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr20:61143846A>G	ENST00000475015.1	-	0	492				C20orf166-AS1_ENST00000412495.1_RNA																							CAGAGTCTGCATGTGCCTCTA	0.657000													33	82					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49227194	49227194	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:49227194T>C	ENST00000308025.3	-	13	1748	c.1669A>G	c.(1669-1671)Atg>Gtg	p.M557V		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	557	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCAAAGCCCATGTCAATCATC	0.552000													14	66					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109311973	109311973	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:109311973C>G	ENST00000436639.2	-	8	2044	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F	SESN1_ENST00000356644.7_Missense_Mutation_p.L374F|SESN1_ENST00000302071.2_Missense_Mutation_p.L308F	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	374					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TTTCATCAATCAACTGTCCCA	0.353000													22	39					0	0	1	0	0
SNRNP27	11017	broad.mit.edu	37	2	70123608	70123608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:70123608C>T	ENST00000244227.3	+	3	621	c.196C>T	c.(196-198)Cga>Tga	p.R66*	SNRNP27_ENST00000409116.1_Nonsense_Mutation_p.R66*	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	66	Arg-rich.				mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TTCCCCTTCTCGACTgaaaga	0.348000													14	49					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50244636	50244636	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr14:50244636C>G	ENST00000298307.5	+	4	1292	c.431C>G	c.(430-432)tCa>tGa	p.S144*	KLHDC2_ENST00000554589.1_Nonsense_Mutation_p.S144*|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Nonsense_Mutation_p.S144*	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	144						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					CCTCCATCATCAAAGGACAAA	0.398000													9	49					0	0	1	0	0
NPM3	10360	broad.mit.edu	37	10	103543112	103543112	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr10:103543112C>G	ENST00000370110.5	-	1	58	c.36G>C	c.(34-36)ttG>ttC	p.L12F	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	12							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TCTCCTGACTCAAAAACGCTA	0.622000													4	21					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33997453	33997453	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:33997453T>C	ENST00000382068.3	-	4	757	c.749A>G	c.(748-750)aAg>aGg	p.K250R	AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000335606.6_Intron|AMACR_ENST00000382072.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000514195.1_Intron			Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CATCATTGGCTTGAAAACATC	0.453000											OREG0016555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	62					0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94218031	94218031	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:94218031G>A	ENST00000415788.2	-	11	1462	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	SGCE_ENST00000428696.2_Nonsense_Mutation_p.Q414*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.Q382*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.Q448*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.Q423*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.Q414*			O43556	SGCE_HUMAN	sarcoglycan, epsilon	423					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATCTGAGTCTGATGTGGCAAG	0.323000													11	54					0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152612686	152612686	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:152612686C>T	ENST00000421401.3	+	4	720	c.543C>T	c.(541-543)ttC>ttT	p.F181F	ZNF275_ENST00000440091.1_Silent_p.F211F|ZNF275_ENST00000370249.2_Silent_p.F128F|ZNF275_ENST00000370251.3_Silent_p.F181F			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	181						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGCCCTTCGAGTGCGAGG	0.602000													10	16					0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94798529	94798529	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:94798529G>A	ENST00000453321.3	+	13	1425	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E	TMEM67_ENST00000409623.3_Missense_Mutation_p.G375E	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	456					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AATGACTTAGGAACTCAGCCA	0.343000													6	39					0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621512	43621512	+	Silent	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:43621512G>C	ENST00000305641.5	-	1	1291	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	392					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AATCTCTTGAGAGCAAGTGAA	0.532000													16	49					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580556	107580556	+	Silent	SNP	G	G	A	rs141885441		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:107580556G>A	ENST00000393561.1	-	23	3895	c.3711C>T	c.(3709-3711)atC>atT	p.I1237I	LAMB1_ENST00000222399.6_Silent_p.I1213I			P07942	LAMB1_HUMAN	laminin, beta 1	1213	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.I1213I(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTAAGGCCCGATCACACCAC	0.537000													14	78					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264097	1264097	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr11:1264097C>T	ENST00000447027.1	+	31	6054	c.5996C>T	c.(5995-5997)tCa>tTa	p.S1999L	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S1996L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1996	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCGCCTATCACAGACCACC	0.637000													43	63					0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12028068	12028068	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr18:12028068G>A	ENST00000269159.3	+	6	759	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	173					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	GGTTCTGACAGAAATTGGCCC	0.498000													17	42					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49925824	49925824	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:49925824G>A	ENST00000270631.1	-	2	305	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	68					neuropeptide signaling pathway	extracellular region				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGAAGGCCGCGTCGTCCGCCA	0.746000													6	16					0	0	1	0	0
RNF139	11236	broad.mit.edu	37	8	125499824	125499824	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:125499824G>C	ENST00000303545.3	+	2	2306	c.1934G>C	c.(1933-1935)aGa>aCa	p.R645T		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	645					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R645I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CAAAGAGAAAGAAATGGAGTG	0.383000													22	53					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964617	7964617	+	Missense_Mutation	SNP	C	C	T	rs138177601	byFrequency	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:7964617C>T	ENST00000539278.1	-	1	3810	c.650G>A	c.(649-651)gGc>gAc	p.G217D	LRRC8E_ENST00000306708.6_Missense_Mutation_p.P404S																							CGAGTGGACGCCCGAGAAGCT	0.622000													3	38					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108799	147108799	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr3:147108799G>C	ENST00000383075.3	-	4	1435	c.923C>G	c.(922-924)tCg>tGg	p.S308W	ZIC4_ENST00000473123.1_Missense_Mutation_p.S308W|ZIC4_ENST00000491672.1_Missense_Mutation_p.S102W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S346W|ZIC4_ENST00000484399.1_Missense_Mutation_p.S308W|ZIC4_ENST00000525172.2_Missense_Mutation_p.S358W	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	308						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGACGAGGGCGACACGAGGGC	0.682000													8	36					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94872765	94872765	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr5:94872765G>C	ENST00000358746.2	-	9	922	c.624C>G	c.(622-624)ttC>ttG	p.F208L		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	208							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AACTCTGAATGAAATGCCTAT	0.294000													23	31					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87696775	87696775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:87696775C>A	ENST00000436978.1	+	35	6356	c.5876C>A	c.(5875-5877)tCa>tAa	p.S1959*	PTPN13_ENST00000411767.2_Nonsense_Mutation_p.S1954*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1763*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S1959*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1935*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1954	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTAGACATGTCACTTCCTTCA	0.388000													6	12					0.248553	0.24949	1	1	0
ARHGAP29	9411	broad.mit.edu	37	1	94645405	94645405	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:94645405C>A	ENST00000260526.6	-	20	2538	c.2356G>T	c.(2356-2358)Gac>Tac	p.D786Y	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	786	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CATTTTTTGTCTTCAAGACTA	0.303000													21	44					6.33239e-15	6.84721e-15	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8871724	8871724	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:8871724T>G	ENST00000256707.3	-	30	4623	c.4442A>C	c.(4441-4443)gAa>gCa	p.E1481A	KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1462A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1382A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1462A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1481					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGATTTTTCATCTTCTTC	0.458000													16	31					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697829	109697829	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:109697829C>T	ENST00000465301.2	+	3	4230	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	RGAG1_ENST00000540313.1_Silent_p.A1328A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1328										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGCCAACAGCCTGTAAGCGGA	0.537000													17	8					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241554	3241554	+	Silent	SNP	G	G	C			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:3241554G>C	ENST00000217939.6	-	5	2326	c.2172C>G	c.(2170-2172)ctC>ctG	p.L724L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	724						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTTTGTTTTGAGGAACACCT	0.473000													13	20					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732																											cagagtgatttcggatgaatt	0.507000													3	44					0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22826480	22826480	+	Silent	SNP	G	G	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr12:22826480G>A	ENST00000266517.4	+	6	1187	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q		NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	366					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGAACTACAGAGTCAGTGGC	0.368000													19	46					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	78					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118635189	118635189	+	Splice_Site	SNP	A	A	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr6:118635189A>G	ENST00000360388.4	+	8	1203		c.e8-1			NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1						transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GTGTTTTTTTAGTTTTCAGGA	0.473000													9	55					0	0	1	0	0
FAM50A	9130	broad.mit.edu	37	X	153673979	153673979	+	Splice_Site	SNP	A	A	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrX:153673979A>T	ENST00000393600.3	+	2	221		c.e2-1			NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A						spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACTCCCCGCAGGAGAACATC	0.572000													8	9					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32815351	32815351	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr22:32815351C>G	ENST00000397452.1	-	13	1368	c.1258G>C	c.(1258-1260)Gag>Cag	p.E420Q	BPIFC_ENST00000534972.1_Missense_Mutation_p.E144Q|BPIFC_ENST00000432451.2_Missense_Mutation_p.E177Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E420Q			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	420						extracellular region	lipopolysaccharide binding|phospholipid binding										ATTCCTACCTCAATGTTGCTG	0.393000													37	50					0	0	1	0	0
CENPBD1	92806	broad.mit.edu	37	16	90038223	90038223	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr16:90038223C>T	ENST00000314994.3	-	1	719	c.108G>A	c.(106-108)gcG>gcA	p.A36A	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	36	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						GCTTCTCACCCGCTTCAAATC	0.463000													6	23					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542370	133542370	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr2:133542370C>G	ENST00000409261.1	-	14	2387	c.2014G>C	c.(2014-2016)Gat>Cat	p.D672H	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D672H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	672							protein binding	p.D672N(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTCCGCATCAAATATCACA	0.443000													25	47					0	0	1	0	0
LPPR2	64748	broad.mit.edu	37	19	11472107	11472107	+	Silent	SNP	C	C	T			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:11472107C>T	ENST00000251473.5	+	6	982	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DKFZP761J1410_ENST00000591608.1_Silent_p.R177R	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CCGCCGCGCGCCGCGCCTTCC	0.697000													9	20					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179544950	179544950	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr1:179544950delC	ENST00000367615.4	-	1	118	c.50delG	c.(49-51)ggcfs	p.G17fs	NPHS2_ENST00000367616.4_Frame_Shift_Del_p.G17fs	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	17					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CGGAGTCCTGCCGCCTCGCCC	0.751													2	4	---	---	---	---					
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													3	3	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209134	28209135	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr8:28209134_28209135insA	ENST00000344423.5	-	7	1241_1242	c.1110_1111insT	c.(1108-1113)cctctgfs	p.L371fs	ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L371fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L371fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	371					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)		GCTTTGTGCAGAGGTGGTGGAA	0.663													14	88	---	---	---	---					
ZNF106	64397	broad.mit.edu	37	15	42740304	42740305	+	In_Frame_Ins	INS	-	-	CAT			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:42740304_42740305insCAT	ENST00000263805.4	-	3	3357_3358	c.3031_3032insATG	c.(3031-3033)ggc>gATGgc	p.1010_1011insD	ZNF106_ENST00000565380.1_In_Frame_Ins_p.238_239insD|ZNF106_ENST00000565611.1_In_Frame_Ins_p.195_196insD	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		AATACTTTGGCCATCATTTTGT	0.446													27	152	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	195	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	5	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20409068	20409068	+	RNA	DEL	T	T	-			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chr19:20409068delT	ENST00000593655.1	-	0	199																											CACAAATATCTGCATGATTTT	0.353													6	4	---	---	---	---					
UTY	7404	broad.mit.edu	37	Y	15448217	15448218	+	Splice_Site	INS	-	-	A			TCGA-GU-A42Q-01A-11D-A23U-08	TCGA-GU-A42Q-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7120fd44-42a9-4d54-95e3-98c1cf763331	cb5cee13-875e-495c-9be6-1faa417254ab	g.chrY:15448217_15448218insA	ENST00000331397.4	-	16	2778		c.e16-2		UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000540140.1_Splice_Site	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked						chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATGAAGCCCCTAAAAAAAAAAA	0.361													3	4	---	---	---	---					
