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
SHC3	53358	broad.mit.edu	37	9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413000													9	61					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17023403	17023403	+	RNA	SNP	G	G	A	rs10907267	by1000genomes	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:17023403G>A	ENST00000492551.1	-	0	1544					NR_026567.1																						GGAACATCACGTTGAAAGACT	0.622000													3	14					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83378116	83378116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr4:83378116G>T	ENST00000273920.3	+	5	839	c.571G>T	c.(571-573)Gaa>Taa	p.E191*	ENOPH1_ENST00000509635.1_Nonsense_Mutation_p.E103*	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	191					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGTAGAGAGTGAAAGTTACCG	0.403000													6	64					5.4927e-09	6.69842e-09	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78022497	78022497	+	Silent	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:78022497C>A	ENST00000397545.4	+	5	819	c.792C>A	c.(790-792)tcC>tcA	p.S264S	CCDC40_ENST00000269318.5_Silent_p.S264S|CCDC40_ENST00000374877.3_Silent_p.S264S|CCDC40_ENST00000374876.4_Silent_p.S264S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	264					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTGGAGTCCGAGGGGAGTG	0.607000													6	27					0.0215528	0.0215528	1	1	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	61					0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56705040	56705040	+	Silent	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:56705040T>C	ENST00000273308.4	-	4	903	c.363A>G	c.(361-363)caA>caG	p.Q121Q	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Silent_p.Q121Q|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	121	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TTCGGATGCCTTGTAGGTCCA	0.507000													26	136					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1083190	1083190	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:1083190G>T	ENST00000441003.2	+	16	2117	c.2090G>T	c.(2089-2091)gGc>gTc	p.G697V	MUC2_ENST00000359061.5_Missense_Mutation_p.G697V	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	697						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGTGGACGGCTGCGGCTGC	0.667000													4	23					0.00198382	0.00215632	1	1	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	38					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98215342	98215342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:98215342G>A	ENST00000284049.3	-	22	3300	c.3151C>T	c.(3151-3153)Caa>Taa	p.Q1051*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1051					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGTCTTCTTTGATCTTCTGGA	0.338000													8	20					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183291	39183291	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:39183291G>C	ENST00000361883.5	-	1	163	c.117C>G	c.(115-117)agC>agG	p.S39R		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	39	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGTCTGGCAGCTGCGTGGCT	0.612000													8	43					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727847	69727847	+	Silent	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:69727847T>C	ENST00000349945.1	+	14	5389	c.3837T>C	c.(3835-3837)tcT>tcC	p.S1279S	NFAT5_ENST00000393742.2_Silent_p.S1279S|NFAT5_ENST00000567239.1_Silent_p.S1372S|NFAT5_ENST00000566899.1_Silent_p.S1279S|NFAT5_ENST00000432919.1_Silent_p.S1373S|NFAT5_ENST00000354436.2_Silent_p.S1355S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1355					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCATAGCTCTCCTCAGATTC	0.483000													8	71					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216262472	216262472	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:216262472C>A	ENST00000354785.4	-	22	3817	c.3448G>T	c.(3448-3450)Gtc>Ttc	p.V1150F	FN1_ENST00000356005.4_Missense_Mutation_p.V1150F|FN1_ENST00000432072.2_Missense_Mutation_p.V1150F|FN1_ENST00000336916.4_Missense_Mutation_p.V1150F|FN1_ENST00000421182.1_Missense_Mutation_p.V1150F|FN1_ENST00000346544.3_Missense_Mutation_p.V1150F|FN1_ENST00000443816.1_Missense_Mutation_p.V1150F|FN1_ENST00000359671.1_Missense_Mutation_p.V1150F|FN1_ENST00000357009.2_Missense_Mutation_p.V1150F|FN1_ENST00000345488.5_Missense_Mutation_p.V1150F|FN1_ENST00000323926.6_Missense_Mutation_p.V1150F|FN1_ENST00000446046.1_Missense_Mutation_p.V1150F|FN1_ENST00000357867.4_Missense_Mutation_p.V1150F			P02751	FINC_HUMAN	fibronectin 1	1150	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGGTGTAGACGTATTCTACT	0.483000													9	72					7.48243e-07	8.7005e-07	1	1	0
ADAM21P1	0	broad.mit.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958	by1000genomes	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1																						AGAGCTTCTTAACCCTCATAT	0.502000													5	85					0	0	1	0	0
ANKRD36BP2	0	broad.mit.edu	37	2	89103878	89103878	+	RNA	SNP	T	T	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:89103878T>A	ENST00000393525.3	+	0	4352																											TAATTTTTTTTAATTCTTTGT	0.284000													3	11					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	104					0	0	1	0	0
ERP27	121506	broad.mit.edu	37	12	15067692	15067692	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:15067692T>G	ENST00000266397.2	-	7	1372	c.799A>C	c.(799-801)Aag>Cag	p.K267Q	ERP27_ENST00000540097.1_Missense_Mutation_p.K166Q	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	267						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						TTTGGAGTCTTTCCTTCTGAT	0.363000													13	42					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348000													4	118					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr17:47696643A>G	ENST00000393331.3	-	6	775	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408000										Prostate(2;0.17)			11	69					0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131761766	131761766	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:131761766C>T	ENST00000368648.3	-	2	228	c.156G>A	c.(154-156)gcG>gcA	p.A52A	EBF3_ENST00000355311.5_Silent_p.A52A	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	52					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCTCGAAGTGCGCCCGCGCCA	0.711000													3	23					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35087001	35087001	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:35087001G>A	ENST00000290378.4	-	2	664	c.9C>T	c.(7-9)gaC>gaT	p.D3D	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	3					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCTCCTCGTCGTCACACATCT	0.667000													19	77					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802525	185802525	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:185802525C>A	ENST00000302277.6	+	4	2996	c.2402C>A	c.(2401-2403)aCt>aAt	p.T801N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	801						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCACCAAGTACTTCAGTTGCT	0.373000													7	44					0.00307968	0.00327625	1	1	0
GPR56	0	broad.mit.edu	37	16	57685484	57685484	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr16:57685484C>T	ENST00000562631.1	+	3	969	c.437C>T	c.(436-438)cCt>cTt	p.P146L	GPR56_ENST00000567835.1_Missense_Mutation_p.P146L|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000540164.2_Missense_Mutation_p.P146L|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000379696.3_Missense_Mutation_p.P146L|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000538815.1_Missense_Mutation_p.P146L|GPR56_ENST00000456916.1_Missense_Mutation_p.P146L|GPR56_ENST00000562558.1_Missense_Mutation_p.P146L|GPR56_ENST00000388812.4_Missense_Mutation_p.P146L|GPR56_ENST00000388813.5_Missense_Mutation_p.P146L|GPR56_ENST00000568909.1_Missense_Mutation_p.P146L|GPR56_ENST00000568908.1_Missense_Mutation_p.P146L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	146					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGGTGGAGCCCTCAGAACATC	0.607000													7	33					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104046463	104046463	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:104046463G>A	ENST00000388887.2	+	12	1591	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	463	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAAGTCGGGGGAAATCTTCAA	0.403000													13	35					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50545830	50545830	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr15:50545830C>A	ENST00000267845.3	-	7	1156	c.754G>T	c.(754-756)Gca>Tca	p.A252S	HDC_ENST00000543581.1_Missense_Mutation_p.A252S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	252					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CAGTCAAATGCACAGACCCCA	0.488000													11	63					7.03913e-09	8.37991e-09	1	1	0
WDR3	10885	broad.mit.edu	37	1	118486064	118486064	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:118486064C>T	ENST00000349139.4	+	11	1190	c.1143C>T	c.(1141-1143)gtC>gtT	p.V381V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	381						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TAAAGGCTGTCTTCCTGCTGC	0.438000													5	34					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665495	141665495	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:141665495G>A	ENST00000389484.3	-	22	4442	c.3471C>T	c.(3469-3471)tgC>tgT	p.C1157C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1157	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C1157*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCCCATTGCAGAGTTTCT	0.438000										TSP Lung(27;0.18)			13	105					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764942	110764942	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764942C>A	ENST00000451085.1	+	4	3160	c.2114C>A	c.(2113-2115)aCa>aAa	p.T705K	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.T705K|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T705K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	705						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTTTACCAACAAATATGTCC	0.343000													8	38					2.17888e-05	2.476e-05	1	1	0
XAB2	56949	broad.mit.edu	37	19	7684907	7684907	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:7684907T>G	ENST00000358368.4	-	17	2358	c.2321A>C	c.(2320-2322)cAg>cCg	p.Q774P	XAB2_ENST00000534844.1_Missense_Mutation_p.Q771P	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	774					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCTGCCCGCTGTTCCAGCAG	0.687000								Direct reversal of damage;Nucleotide excision repair (NER)					3	24					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117619327	117619327	+	Silent	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:117619327C>T	ENST00000369466.3	+	7	1499	c.1455C>T	c.(1453-1455)ggC>ggT	p.G485G		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	485					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTACCACTGGCCCTCCCCACC	0.517000													7	39					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764938	110764938	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr7:110764938C>G	ENST00000451085.1	+	4	3156	c.2110C>G	c.(2110-2112)Cca>Gca	p.P704A	IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P704A|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P704A|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	704						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TATAGGTTTACCAACAAATAT	0.343000													7	41					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42620325	42620325	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr6:42620325T>G	ENST00000372899.1	+	25	2969	c.2711T>G	c.(2710-2712)aTt>aGt	p.I904S	UBR2_ENST00000372901.1_Missense_Mutation_p.I904S|UBR2_ENST00000372883.3_Missense_Mutation_p.I408S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	904					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGGGAACAATTCTGCAATGG	0.428000													31	113					0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8203211	8203211	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr12:8203211G>A	ENST00000162391.3	+	10	2776	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	544					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GGATACAATCGCCCAGGTAAG	0.502000													5	34					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927409	55927409	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:55927409G>T	ENST00000313447.1	-	1	384	c.385C>A	c.(385-387)Cct>Act	p.P129T		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAGCAGAGGGTTACAAATG	0.428000													5	66					0.014758	0.0150592	1	1	0
PCDHGA8	0	broad.mit.edu	37	5	140773889	140773889	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140773889G>A	ENST00000398604.2	+	1	1509	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGTCCTCGTATATCTCCA	0.567000													3	42					0	0	1	0	0
PSMD5	5711	broad.mit.edu	37	9	123591480	123591480	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr9:123591480T>C	ENST00000210313.3	-	5	642	c.568A>G	c.(568-570)Ata>Gta	p.I190V	PSMD5_ENST00000373904.5_Missense_Mutation_p.I147V|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	190					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|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						GAAATCTCTATAATTAGCTGA	0.383000													3	27					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45780823	45780823	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:45780823A>G	ENST00000263736.4	-	11	1518	c.1456T>C	c.(1456-1458)Tat>Cat	p.Y486H	SRBD1_ENST00000535761.1_Missense_Mutation_p.Y5H	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	486					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AGTGAATTATATAAGATCTTC	0.348000													5	55					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157805811	157805811	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:157805811C>A	ENST00000368174.4	-	3	286	c.190G>T	c.(190-192)Gag>Tag	p.E64*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	64	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCCCAGCTCCCGGCACAAC	0.577000													23	161					1.64293e-13	2.05367e-13	1	1	0
GALNT14	79623	broad.mit.edu	37	2	31165137	31165137	+	Silent	SNP	G	G	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr2:31165137G>A	ENST00000349752.5	-	9	1500	c.861C>T	c.(859-861)atC>atT	p.I287I	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.I292I|GALNT14_ENST00000356174.3_Silent_p.I254I|GALNT14_ENST00000420311.2_Silent_p.I252I|GALNT14_ENST00000406653.1_Silent_p.I267I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	287	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I287I(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AAGCTTTGTCGATCACGAAGA	0.488000													4	66					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164748597	164748597	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr3:164748597T>C	ENST00000264382.3	-	25	2857	c.2795A>G	c.(2794-2796)aAt>aGt	p.N932S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	932	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GAAAATTTGATTCCATTGAAC	0.313000										HNSCC(35;0.089)			11	36					0	0	1	0	0
CD79A	0	broad.mit.edu	37	19	42383300	42383300	+	Missense_Mutation	SNP	G	G	A	rs143511203		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:42383300G>A	ENST00000221972.3	+	2	505	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	CD79A_ENST00000444740.2_Intron	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	107	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TACGTGTGCCGGGTCCAGGAG	0.642000			"""O, S"""		DLBCL								6	33					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123677008	123677008	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr11:123677008G>C	ENST00000309154.2	-	1	87	c.50C>G	c.(49-51)gCt>gGt	p.A17G		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTCCAGGAGAGCTGGGAAGGC	0.438000													14	46					0	0	1	0	0
PCDHB5	0	broad.mit.edu	37	5	140517015	140517015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:140517015C>T	ENST00000231134.5	+	1	2216	c.1999C>T	c.(1999-2001)Cag>Tag	p.Q667*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCTTCTCCCAGCCCTACCT	0.706000													22	96					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	18					0.004672	0.00486667	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	388					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313000													7	23					0.00198382	0.00215632	1	1	0
COL24A1	255631	broad.mit.edu	37	1	86340995	86340995	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr1:86340995C>T	ENST00000370571.2	-	34	3415	c.3049G>A	c.(3049-3051)Gga>Aga	p.G1017R	COL24A1_ENST00000436319.1_Missense_Mutation_p.G1017R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1017	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCAGACTCTCCCTCAGTGCCT	0.428000													3	35					0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774		TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.103_splice	c.e1+1	p.ED34_splice	XPC_ENST00000449060.2_Splice_Site_p.ED34_splice|LSM3_ENST00000306024.3_5'UTR	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	53	---	---	---	---					
DLG5	9231	broad.mit.edu	37	10	79613112	79613114	+	Splice_Site	DEL	CTG	CTG	-			TCGA-KK-A7B0-01A-11D-A32B-08	TCGA-KK-A7B0-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379f2694-a7e1-4f6f-98c1-aabaa42f883c	b2e1507b-1fa5-4368-a706-2eee5e98d006	g.chr10:79613112_79613114delCTG	ENST00000372391.2	-	5	867_869	c.864_splice	c.e5+1	p.Q288_splice	DLG5_ENST00000372388.2_Splice_Site_p.Q288_splice	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	288					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ctgggCCTACCTGCTGCTGCTGG	0.576													2	4	---	---	---	---