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
TMPPE	643853	broad.mit.edu	37	3	33134911	33134911	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:33134911G>A	ENST00000342462.4	-	2	967	c.777C>T	c.(775-777)gtC>gtT	p.V259V	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.V122V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	259						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCAGAGGAGCGACAGCCGTCC	0.537000													24	86					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31604940	31604940	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:31604940G>A	ENST00000389082.5	-	5	1827	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	DENND5B_ENST00000306833.6_Silent_p.V556V|DENND5B_ENST00000354285.4_Silent_p.V543V|DENND5B_ENST00000536562.1_Silent_p.V556V	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	521	dDENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CAGTCTGAATGACAAATGCTT	0.443000													11	103					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271790	22271790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:22271790C>G	ENST00000594947.1	+	4	1382	c.1238C>G	c.(1237-1239)tCa>tGa	p.S413*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACTGGTCCTCAGCTCTTACT	0.398000													10	33					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26188994	26188994	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:26188994C>T	ENST00000340756.2	-	1	310	c.311G>A	c.(310-312)tGa>tAa	p.*104*		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	0					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GAGGTAAGCTCAGCCGCCGAA	0.537000													8	61					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180675620	180675620	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:180675620A>G	ENST00000357559.4	+	10	1278	c.894A>G	c.(892-894)ggA>ggG	p.G298G	FXR1_ENST00000445140.2_Silent_p.G298G|FXR1_ENST00000305586.7_Silent_p.G213G|FXR1_ENST00000468861.1_Silent_p.G213G|FXR1_ENST00000491062.1_Silent_p.G249G|FXR1_ENST00000480918.1_Silent_p.G285G	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAGTAATTGGAAAAAATGGCA	0.343000													10	76					0	0	1	0	0
TNFAIP1	7126	broad.mit.edu	37	17	26669328	26669328	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:26669328C>T	ENST00000226225.2	+	6	841	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNFAIP1_ENST00000583213.1_3'UTR|TNFAIP1_ENST00000544907.2_Missense_Mutation_p.R88C	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	192					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCTCTCCCTGCGCTTCAACGG	0.547000													9	41					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99148933	99148933	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:99148933C>G	ENST00000401707.2	+	8	1316	c.1235C>G	c.(1234-1236)tCt>tGt	p.S412C	POP1_ENST00000349693.3_Missense_Mutation_p.S412C	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	412					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CTACCATACTCTTGGATCTCT	0.358000													8	67					0	0	1	0	0
CELF1	10658	broad.mit.edu	37	11	47493803	47493803	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:47493803C>T	ENST00000395290.2	-	12	1446	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K	CELF1_ENST00000358597.3_Silent_p.K480K|CELF1_ENST00000531165.1_Silent_p.K508K|CELF1_ENST00000532048.1_Silent_p.K506K|CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000310513.5_Silent_p.K476K|CELF1_ENST00000361904.3_Silent_p.K477K|CELF1_ENST00000395292.2_Silent_p.K477K	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	480	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						TGCTGTCATTCTTCGAACGTT	0.527000													18	270					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74702235	74702235	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:74702235C>T	ENST00000393965.3	-	8	2200	c.1804G>A	c.(1804-1806)Gga>Aga	p.G602R	CCDC142_ENST00000290418.4_Missense_Mutation_p.G595R	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	602										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCAGCGCTCCCTGCAGGCTG	0.582000													6	136					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156145022	156145022	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:156145022C>G	ENST00000368285.3	+	13	1847	c.1580C>G	c.(1579-1581)tCt>tGt	p.S527C	SEMA4A_ENST00000368286.2_Missense_Mutation_p.S395C|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.S527C|SEMA4A_ENST00000368284.1_Missense_Mutation_p.S395C|SEMA4A_ENST00000355014.2_Missense_Mutation_p.S527C	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	527	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGCCTCCTGTCTGCCCCCAAC	0.617000													68	192					0	0	1	0	0
MORN4	118812	broad.mit.edu	37	10	99379418	99379418	+	Translation_Start_Site	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:99379418G>C	ENST00000307450.6	-	0	156				PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000370635.3_De_novo_Start_OutOfFrame|MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_De_novo_Start_OutOfFrame|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4											large_intestine(1)|lung(1)|stomach(2)	4						CATGGTGACAGATTACAGGAT	0.483000													4	62					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117128203	117128203	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:117128203C>T	ENST00000310357.3	-	3	686	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R222Q|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R222Q	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	222					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		AAGAGCCAATCGTCCATAGTC	0.408000													13	194					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73235278	73235278	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:73235278C>T	ENST00000377110.3	-	15	2050	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	TRPM3_ENST00000408909.2_Missense_Mutation_p.D462N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D603N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D607N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D475N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D450N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D452N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D465N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D630N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D462N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D465N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D475N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity	p.D607N(1)|p.D603N(1)|p.D475N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGGGAATATCATCCTGTAAT	0.438000													20	209					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899002	175899002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:175899002C>T	ENST00000359240.3	+	5	2996	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.Q776*|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.Q776*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.Q776*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	776	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCCTTCTCAGAGTCAACC	0.567000													14	115					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871382	71871382	+	Silent	SNP	C	C	T	rs145574275	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:71871382C>T	ENST00000373255.4	+	9	1326	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	354	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						TCCTGCTCTTCGACAGCGAGA	0.602000													11	46					0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41945174	41945174	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:41945174C>T	ENST00000372587.4	-	5	513		c.e5-1		EDN2_ENST00000490783.1_Splice_Site	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2						artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAAATGTCCCTGGGAATCAA	0.552000													5	53					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435847	158435847	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:158435847C>G	ENST00000289451.2	+	1	576	c.496C>G	c.(496-498)Ctg>Gtg	p.L166V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGTATTTCATCTGCCCTTCCA	0.547000													64	180					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917592	48917592	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:48917592G>A	ENST00000311378.4	+	2	1471	c.943G>A	c.(943-945)Gag>Aag	p.E315K	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222K	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	315						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGCCACCTCAGAGAGCAGCCC	0.657000													9	71					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119045225	119045225	+	Missense_Mutation	SNP	C	C	T	rs149154497		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:119045225C>T	ENST00000409109.1	+	6	1500	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	NLRX1_ENST00000409991.1_Missense_Mutation_p.R305C|NLRX1_ENST00000409265.4_Missense_Mutation_p.R305C|NLRX1_ENST00000525863.1_Missense_Mutation_p.R305C|NLRX1_ENST00000292199.2_Missense_Mutation_p.R305C	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	305	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTACGTGGGCCGCTATGGTGA	0.567000													12	194					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468553	56468553	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:56468553C>T	ENST00000312153.1	+	1	690	c.690C>T	c.(688-690)tcC>tcT	p.S230S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCTCCTCCTCCAAGGGCTACC	0.522000													12	245					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183629	11183629	+	Silent	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:11183629G>T	ENST00000390675.2	-	1	377	c.306C>A	c.(304-306)ctC>ctA	p.L102L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	102					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AAAATATGCTGAGGCTAGTAG	0.403000													10	202					0.000442599	0.000450796	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87671842	87671842	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:87671842C>G	ENST00000436978.1	+	18	3350	c.2870C>G	c.(2869-2871)gCt>gGt	p.A957G	PTPN13_ENST00000427191.2_Missense_Mutation_p.A957G|PTPN13_ENST00000511467.1_Missense_Mutation_p.A957G|PTPN13_ENST00000411767.2_Missense_Mutation_p.A957G|PTPN13_ENST00000316707.6_Intron	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)	957						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)		AATGACAAAGCTTCATGGGAG	0.423000													11	32					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475268	50475268	+	RNA	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:50475268C>T	ENST00000602139.1	+	0	1214									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GGAGCTGCCTCGGGTTCAAAT	0.677000													12	53					0	0	1	0	0
AQP1	358	broad.mit.edu	37	7	30962182	30962182	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30962182G>T	ENST00000311813.4	+	3	608	c.553G>T	c.(553-555)Gac>Tac	p.D185Y	AQP1_ENST00000434909.2_Missense_Mutation_p.D245Y|AQP1_ENST00000509504.1_Missense_Mutation_p.D362Y|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409899.1_Missense_Mutation_p.D70Y|AQP1_ENST00000441328.2_Missense_Mutation_p.D102Y|AQP1_ENST00000409611.1_Missense_Mutation_p.D134Y	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				ctcACAGATTGACTACACTGG	0.557000													19	307					5.26018e-13	5.51066e-13	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103404632	103404632	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:103404632C>T	ENST00000358392.2	-	44	3750	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	COL11A1_ENST00000370096.3_Missense_Mutation_p.E1133K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E1094K|COL11A1_ENST00000512756.1_Missense_Mutation_p.E1017K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1133	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGTCCCGGCTCACCAATTTCA	0.333000													32	81					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76171016	76171016	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:76171016C>T	ENST00000529032.1	+	5	458	c.458C>T	c.(457-459)cCa>cTa	p.P153L	C11orf30_ENST00000343878.3_Missense_Mutation_p.P153L|C11orf30_ENST00000525919.1_Missense_Mutation_p.P154L|C11orf30_ENST00000334736.3_Missense_Mutation_p.P153L|C11orf30_ENST00000525038.1_Missense_Mutation_p.P168L|C11orf30_ENST00000524767.1_Missense_Mutation_p.P168L|C11orf30_ENST00000524490.1_Missense_Mutation_p.P154L|C11orf30_ENST00000533248.1_Missense_Mutation_p.P167L			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	153	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ACGTCAACCCCAACCTCTACC	0.458000													33	179					0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134477108	134477108	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:134477108C>T	ENST00000319914.5	-	6	1623	c.596G>A	c.(595-597)gGa>gAa	p.G199E	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.G199E|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.G199E|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.G199E			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	199					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GACATTATCTCCCAGCTCCCG	0.582000													14	145					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301252	11301252	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:11301252G>A	ENST00000397056.1	+	3	720	c.529G>A	c.(529-531)Gag>Aag	p.E177K	HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGTGCGCCGAGAGGACAAGTG	0.522000													9	172					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179290667	179290667	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:179290667G>A	ENST00000356834.3	-	22	3571	c.3534C>T	c.(3532-3534)ggC>ggT	p.G1178G	TBC1D9B_ENST00000444477.2_Silent_p.G319G|TBC1D9B_ENST00000355235.3_Silent_p.G1161G|TBC1D9B_ENST00000519746.1_Silent_p.G337G|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1178						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCCTCCCCGCCCACCAGCA	0.627000													12	54					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21852042	21852042	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:21852042C>T	ENST00000216297.2	-	1	383	c.45G>A	c.(43-45)aaG>aaA	p.K15K	SUPT16H_ENST00000555943.1_Silent_p.K15K	NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	15					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTACAGTCTCTTCACTCGCC	0.547000													8	74					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13273104	13273104	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:13273104G>C	ENST00000379350.1	+	10	1533	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	PHACTR1_ENST00000379329.1_Missense_Mutation_p.Q32H|PHACTR1_ENST00000379335.3_Missense_Mutation_p.Q32H|PHACTR1_ENST00000332995.7_Missense_Mutation_p.Q468H|PHACTR1_ENST00000457702.2_Missense_Mutation_p.Q323H|RP1-257A7.4_ENST00000606627.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	468						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGCTGAGCCAGAGGCCAACTG	0.458000													21	289					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256687	9256687	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:9256687C>G	ENST00000262126.4	+	9	3662	c.3422C>G	c.(3421-3423)tCa>tGa	p.S1141*	ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.S1118*|ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.S1118*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTTACTAGGTCAAAGAGTTCA	0.333000													8	92					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	87					0	0	1	0	0
CMPK1	51727	broad.mit.edu	37	1	47840885	47840885	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:47840885C>T	ENST00000371873.5	+	5	714	c.565C>T	c.(565-567)Cag>Tag	p.Q189*	CMPK1_ENST00000450808.2_Nonsense_Mutation_p.Q140*	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	157					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GACCTACCTTCAGTCAACAAA	0.368000													10	164					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293317	130293317	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:130293317G>A	ENST00000358511.6	+	7	3526	c.3495G>A	c.(3493-3495)aaG>aaA	p.K1165K	COL6A6_ENST00000453409.2_Silent_p.K1165K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1165	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATGAACTGAAGAAGGTCAATA	0.463000													17	61					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651894	128651894	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:128651894G>T	ENST00000281154.4	+	1	362	c.194G>T	c.(193-195)gGc>gTc	p.G65V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	65					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CGGTACAAAGGCATGGTGGAC	0.677000													5	33					0.000602214	0.000607739	1	1	0
KCTD7	154881	broad.mit.edu	37	7	66240337	66240337	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:66240337G>A	ENST00000380828.2	+	5	577	c.423G>A	c.(421-423)gtG>gtA	p.V141V	RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.V115V|KCTD7_ENST00000510829.2_Silent_p.V101V|RABGEF1_ENST00000450873.2_Silent_p.V101V|KCTD7_ENST00000451741.2_Silent_p.V101V|RABGEF1_ENST00000284957.5_Silent_p.V101V|RABGEF1_ENST00000439720.2_Silent_p.V114V			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTACCACAGTGAAGAAATTCT	0.468000													6	66					0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180419911	180419911	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:180419911G>A	ENST00000342868.6	+	2	332	c.148G>A	c.(148-150)Gct>Act	p.A50T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	50					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CAGTGCAGAGGCTATGGAAGT	0.562000													3	32					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33998823	33998823	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:33998823C>G	ENST00000379238.1	-	3	256	c.139G>C	c.(139-141)Gat>Cat	p.D47H	UBAP2_ENST00000449054.1_Missense_Mutation_p.D47H|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.D47H|UBAP2_ENST00000539807.1_Missense_Mutation_p.D9H|UBAP2_ENST00000360802.1_Missense_Mutation_p.D47H			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	47								p.D47N(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCATTCTTATCAAAGATCACT	0.328000													16	93					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137655583	137655583	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:137655583C>T	ENST00000371817.3	+	20	2448	c.2034C>T	c.(2032-2034)ccC>ccT	p.P678P		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	678	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGGGAGCCCGTAAGTCTGT	0.587000													8	78					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:44792882G>C	ENST00000291182.4	-	5	808	c.706C>G	c.(706-708)Cat>Gat	p.H236D	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358000													7	96					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46657366	46657366	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:46657366G>C	ENST00000544460.1	+	1	1755	c.1501G>C	c.(1501-1503)Gag>Cag	p.E501Q	TDRD6_ENST00000316081.6_Missense_Mutation_p.E501Q	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	501					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.E501K(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAATCCTTCTGAGTTTTGGAT	0.413000													45	125					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49883353	49883353	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:49883353G>A	ENST00000553127.1	+	6	724	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SPATS2_ENST00000321898.6_Missense_Mutation_p.E71K|SPATS2_ENST00000552918.1_Missense_Mutation_p.E71K			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	71						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGCATTCATGGAAGGTAATCC	0.328000													10	43					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154680984	154680984	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:154680984G>A	ENST00000404039.1	+	24	2702	c.2115G>A	c.(2113-2115)atG>atA	p.M705I	DPP6_ENST00000427557.1_Missense_Mutation_p.M662I|DPP6_ENST00000377770.3_Missense_Mutation_p.M769I|DPP6_ENST00000332007.3_Missense_Mutation_p.M707I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	769					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATGTGCAGATGACCAAGGTAG	0.537000													4	24					0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624476	21624476	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:21624476G>A	ENST00000444129.2	-	13	2021	c.1553C>T	c.(1552-1554)tCt>tTt	p.S518F	RECQL_ENST00000421138.2_Missense_Mutation_p.S518F	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	518					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCCATCCAAGAATCAATCAG	0.423000								Other identified genes with known or suspected DNA repair function					16	159					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111072480	111072480	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111072480C>T	ENST00000551590.1	+	6	874	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	TCTN1_ENST00000397659.4_Silent_p.L240L|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Intron|TCTN1_ENST00000551555.2_Intron|TCTN1_ENST00000377654.3_Silent_p.L62L			Q2MV58	TECT1_HUMAN	tectonic family member 1	240					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTAGCGTTTCTGGTGAACCA	0.343000													4	20					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135107051	135107051	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:135107051G>C	ENST00000428680.2	-	3	505	c.226C>G	c.(226-228)Caa>Gaa	p.Q76E	CNOT4_ENST00000361528.4_Missense_Mutation_p.Q76E|CNOT4_ENST00000451834.1_Missense_Mutation_p.Q76E|CNOT4_ENST00000315544.5_Missense_Mutation_p.Q76E|CNOT4_ENST00000423368.2_Missense_Mutation_p.Q76E|CNOT4_ENST00000414802.1_Missense_Mutation_p.Q76E|CNOT4_ENST00000356162.4_Missense_Mutation_p.Q76E|CNOT4_ENST00000541284.1_Missense_Mutation_p.Q76E	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	76					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTTATCCTTTGCAGCTCTTCC	0.333000													6	107					0	0	1	0	0
GSE1	23199	broad.mit.edu	37	16	85704674	85704674	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:85704674G>A	ENST00000253458.7	+	15	3665	c.3489G>A	c.(3487-3489)ctG>ctA	p.L1163L	GSE1_ENST00000393243.1_Silent_p.L1090L|GSE1_ENST00000405402.2_Silent_p.L1059L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		GCCTCAGCCTGACGGCAGAGC	0.532000													4	58					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7225069	7225069	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7225069G>A	ENST00000399464.2	-	18	2924	c.2909C>T	c.(2908-2910)tCc>tTc	p.S970F	NEURL4_ENST00000570460.1_Missense_Mutation_p.S946F|NEURL4_ENST00000315614.7_Missense_Mutation_p.S968F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCGCAGGGAACCTGCCCA	0.642000													9	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:7578272G>A	ENST00000420246.2	-	6	709	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(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)		CGGATAAGATGCTGAGGAGGG	0.557000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	41					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	45					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869055	22869055	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:22869055G>A	ENST00000302097.3	-	2	1152	c.900C>T	c.(898-900)tgC>tgT	p.C300C		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CGCAGCTGAGGCATTTAAAGG	0.413000													35	179					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25472060	25472060	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:25472060G>A	ENST00000278886.6	-	11	1485	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	NINL_ENST00000422516.1_Missense_Mutation_p.A471V	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	471					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCACTCCAGCGCGGCCCTCTG	0.692000													10	76					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76547693	76547693	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:76547693C>G	ENST00000389840.5	-	16	2439	c.2315G>C	c.(2314-2316)cGa>cCa	p.R772P	DNAH17_ENST00000585328.1_Missense_Mutation_p.R772P					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGAATTTCTCGCACCTCTTG	0.433000													7	95					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167607	18167607	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167607G>A	ENST00000323019.4	+	4	1105	c.894G>A	c.(892-894)gaG>gaA	p.E298E	MIEF2_ENST00000395706.2_Silent_p.E309E|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2			mitochondrial elongation factor 2	298																	AACGCCTGGAGCTCACTGTGG	0.682000													7	92					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118511	68118511	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:68118511G>A	ENST00000380035.2	+	2	403	c.345G>A	c.(343-345)gaG>gaA	p.E115E	SKOR1_ENST00000554240.1_Silent_p.E76E|SKOR1_ENST00000389002.1_Silent_p.E106E|SKOR1_ENST00000341418.5_Silent_p.E301E|SKOR1_ENST00000554054.1_Silent_p.E87E			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	115					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCTATAATGAGATCCACAACC	0.632000													10	80					0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49022469	49022469	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:49022469C>G	ENST00000376338.3	+	4	638	c.559C>G	c.(559-561)Cgc>Ggc	p.R187G	MAGIX_ENST00000425661.2_Missense_Mutation_p.R170G|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.R182G|MAGIX_ENST00000412696.2_Missense_Mutation_p.R246G			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	246	PDZ.																AACGGGGTCTCGCAGCAGCAG	0.637000													5	34					0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59860925	59860925	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:59860925G>A	ENST00000278888.3	+	5	533	c.431G>A	c.(430-432)gGa>gAa	p.G144E		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	144					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GGGGGAACGGGAATTACCATC	0.488000													5	101					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53225239	53225239	+	Missense_Mutation	SNP	C	C	A	rs140032117	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:53225239C>A	ENST00000330553.5	-	2	683	c.649G>T	c.(649-651)Gac>Tac	p.D217Y		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	217	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTCTGAGTCCAGCCTCCCC	0.622000													31	115					2.09667e-21	2.22834e-21	1	1	0
CR1	1378	broad.mit.edu	37	1	207791495	207791495	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:207791495C>T	ENST00000367049.4	+	42	6969	c.6969C>T	c.(6967-6969)atC>atT	p.I2323I	CR1_ENST00000400960.2_Silent_p.I1873I|CR1_ENST00000367053.1_Silent_p.I1873I|CR1_ENST00000367051.1_Silent_p.I1873I|CR1_ENST00000367052.1_Silent_p.I1873I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1873					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGATGACAATCAGCTACATTT	0.473000													8	159					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													9	31					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479144	130479144	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:130479144G>A	ENST00000373289.3	+	2	120	c.40G>A	c.(40-42)Ggc>Agc	p.G14S	TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_5'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	14							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGTTGACCAGGGCCCCTCACG	0.602000													7	43					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5077281	5077281	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:5077281C>G	ENST00000312251.3	-	8	1293	c.1274G>C	c.(1273-1275)aGa>aCa	p.R425T	NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	425					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	p.R425T(1)		endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ATAGGTACCTCTGGAGACGCT	0.607000													4	63					0	0	1	0	0
DDX39B	7919	broad.mit.edu	37	6	31506817	31506817	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:31506817G>A	ENST00000449074.2	-	4	544	c.359C>T	c.(358-360)tCt>tTt	p.S120F	DDX39B_ENST00000376177.2_Intron|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|DDX39B_ENST00000458640.1_Intron|DDX39B_ENST00000453105.2_Intron|DDX39B_ENST00000415382.2_Intron|DDX39B_ENST00000417556.2_Intron|DDX39B_ENST00000396172.1_Intron			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	0	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AAGGGTAACAGAGGTCATGTG	0.483000													15	118					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682550	50682550	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:50682550G>A	ENST00000439308.2	-	1	831	c.339C>T	c.(337-339)ctC>ctT	p.L113L	TUBGCP6_ENST00000248846.5_Silent_p.L113L	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	113					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTGAACCAGGAGGTCCAAAA	0.587000													5	93					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701330	195701330	+	RNA	SNP	C	C	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:195701330C>A	ENST00000427841.1	-	0	1494					NR_003264.2																						GGTCCAATAGCGAGTTTGCCC	0.597000													7	44					0.0381472	0.0383214	1	1	0
MRGPRX2	117194	broad.mit.edu	37	11	19077062	19077062	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:19077062G>A	ENST00000329773.2	-	2	975	c.888C>T	c.(886-888)ctC>ctT	p.L296L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	296					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GAGCCAGCTTGAGGATCGGCT	0.552000													5	69					0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909479	124909479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:124909479C>T	ENST00000339992.3	+	2	919	c.662C>T	c.(661-663)tCg>tTg	p.S221L		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	221					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GCGCACGCGTCGGCGCAGACT	0.667000													3	27					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27016513	27016513	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:27016513C>T	ENST00000314616.6	+	25	3559	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	SUPT6H_ENST00000347486.4_Silent_p.I1092I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1092					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.I1092I(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGAAGAAATCTTGGAAAACC	0.542000													5	72					0	0	1	0	0
CHIAP2	149620	broad.mit.edu	37	1	111825226	111825226	+	RNA	SNP	C	C	T	rs6687390	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:111825226C>T	ENST00000369743.4	+	0	1015					NR_003928.1																						CTGAGAACCACCAGACTTTCA	0.527000													6	137					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68901008	68901008	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:68901008G>A	ENST00000261778.1	+	4	891	c.879G>A	c.(877-879)atG>atA	p.M293I		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		AGACACAGATGAGGTGTCGGG	0.502000													11	109					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32506039	32506039	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:32506039C>T	ENST00000266088.4	+	15	2084	c.1834C>T	c.(1834-1836)Cta>Tta	p.L612L	SLC5A1_ENST00000543737.1_Silent_p.L485L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	612					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTTTGTGGGCTAGAGCAGCA	0.468000													15	74					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170502423	170502423	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:170502423G>C	ENST00000447353.1	-	9	1692	c.1587C>G	c.(1585-1587)ctC>ctG	p.L529L		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TATAAAAAGGGAGCTGGACTC	0.408000													25	71					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3954291	3954291	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3954291G>A	ENST00000381638.2	-	36	5771	c.5647C>T	c.(5647-5649)Cgg>Tgg	p.R1883W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1883							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCACTGATCCGAATGGTTACC	0.532000													23	49					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62248557	62248557	+	Silent	SNP	G	G	C	rs112066687		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62248557G>C	ENST00000258991.3	-	7	2679	c.2595C>G	c.(2593-2595)ctC>ctG	p.L865L	TEX2_ENST00000583097.1_Silent_p.L858L|TEX2_ENST00000584379.1_Silent_p.L858L			Q8IWB9	TEX2_HUMAN	testis expressed 2	858					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TAAAGTAGGGGAGCTAGAGGA	0.493000													5	38					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93125804	93125804	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:93125804C>G	ENST00000216487.7	+	7	2484	c.2325C>G	c.(2323-2325)ctC>ctG	p.L775L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	775	VPS9.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCATGGCCCTCGGCAACCCAG	0.582000													9	76					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977490	3977490	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3977490C>T	ENST00000381638.2	-	24	3763	c.3639G>A	c.(3637-3639)ctG>ctA	p.L1213L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1213							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGTCCCATCAGCCGGGAGA	0.572000													13	197					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12308761	12308761	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:12308761G>A	ENST00000317702.5	+	2	367	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TUBB6_ENST00000592683.1_Missense_Mutation_p.E45K|TUBB6_ENST00000586653.1_Missense_Mutation_p.E45K|TUBB6_ENST00000590967.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591208.1_Missense_Mutation_p.E45K|TUBB6_ENST00000591909.1_Missense_Mutation_p.E45K			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	45					'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)		GCTGCAGCTGGAGAGAATCAA	0.662000													16	76					0	0	1	0	0
PBK	55872	broad.mit.edu	37	8	27667830	27667830	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:27667830C>T	ENST00000301905.4	-	8	1424	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PBK_ENST00000522944.1_Missense_Mutation_p.D332N|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	321	PDZ-interaction.|Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		CACTAGACATCTGTTTCCAGA	0.358000													7	106					0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100468309	100468309	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:100468309C>T	ENST00000200457.4	+	6	1303	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	315	LIM zinc-binding 1.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCAGCTTCGCGGCCAGCA	0.617000													6	44					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167929	18167929	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167929G>C	ENST00000323019.4	+	4	1427	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	MIEF2_ENST00000395706.2_Missense_Mutation_p.E417Q|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2			mitochondrial elongation factor 2	406																	GCAAGCCCTGGAGCTGCTCAT	0.642000													5	71					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179572483	179572483	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:179572483C>T	ENST00000589042.1	-	100	29035	c.28811G>A	c.(28810-28812)gGa>gAa	p.G9604E	TTN_ENST00000591111.1_Missense_Mutation_p.G9287E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8360E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9287							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACGTATTCTCCTTCACTCAC	0.458000													5	105					0	0	1	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29966488	29966488	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:29966488G>A	ENST00000216121.7	-	2	386	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	44								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						AGAGGGAGCGGAACCAGCTGC	0.552000													4	32					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141331735	141331735	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr4:141331735C>T	ENST00000325617.5	-	3	630	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	CLGN_ENST00000414773.1_Missense_Mutation_p.E64K|CLGN_ENST00000537281.1_Missense_Mutation_p.E64K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	64					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCAAAAGTTTCTGCAAAATAT	0.299000													4	54					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9313698	9313698	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:9313698C>G	ENST00000261336.2	-	23	2831	c.2803G>C	c.(2803-2805)Gag>Cag	p.E935Q	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.E721Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GACAACTGCTCAGACACATTA	0.413000													31	86					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186283842	186283842	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:186283842G>A	ENST00000367478.4	-	50	7251	c.6955C>T	c.(6955-6957)Caa>Taa	p.Q2319*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTTTGGTTGACTACTACTA	0.333000			T	NTRK1	papillary thyroid								6	58					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380343	56380343	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:56380343G>A	ENST00000526538.1	-	1	635	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAGAATGATGAAGAGAGAGC	0.473000													16	98					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72552921	72552921	+	Silent	SNP	C	C	T	rs28625945		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:72552921C>T	ENST00000569795.1	-	10	1341	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PARP6_ENST00000260376.7_Silent_p.K218K|PARP6_ENST00000287196.9_Silent_p.K218K|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	218							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CTTTGGGGTTCTTCATGGTAC	0.582000													69	442					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138765	5138765	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:5138765C>T	ENST00000380554.3	+	2	900	c.248C>T	c.(247-249)tCa>tTa	p.S83L	AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.S60L|AKR1C3_ENST00000439082.2_5'UTR	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	83					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TTCTACACTTCAAAGGTACTG	0.408000													15	141					0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99149172	99149172	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:99149172C>T	ENST00000401707.2	+	9	1433	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	POP1_ENST00000349693.3_Missense_Mutation_p.S451F	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	451					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCTGCTTCTGTCCACACT	0.368000													6	124					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267202	48267202	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:48267202G>A	ENST00000302329.3	+	1	595	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCTGCTCTGACACCTTCCT	0.483000													15	266					0	0	1	0	0
SRGN	5552	broad.mit.edu	37	10	70863778	70863778	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:70863778G>A	ENST00000242465.3	+	3	419	c.379G>A	c.(379-381)Gat>Aat	p.D127N	SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin	127					apoptosis|biomineral tissue development|maintenance of granzyme B location in T cell secretory granule|maintenance of protease location in mast cell secretory granule|negative regulation of bone mineralization|negative regulation of cytokine secretion|platelet activation|platelet degranulation|protein maturation by peptide bond cleavage	extracellular space|mast cell granule|platelet alpha granule lumen				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						AGACGAAAGTGATGCTTTCCA	0.483000													8	90					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937337	91937337	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937337C>T	ENST00000554684.1	-	10	1961	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	SMEK1_ENST00000337238.4_Missense_Mutation_p.D489N|SMEK1_ENST00000554943.1_Missense_Mutation_p.D502N|SMEK1_ENST00000428424.2_Missense_Mutation_p.D263N|SMEK1_ENST00000555462.1_Missense_Mutation_p.D263N	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	502						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTCTGAAAATCATCTAAAAGA	0.289000													11	47					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158532517	158532517	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:158532517G>A	ENST00000367104.3	-	17	1977	c.1846C>T	c.(1846-1848)Cta>Tta	p.L616L	SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	616					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACAGGAATTAGATCTCCAATG	0.348000													4	55					0	0	1	0	0
FKBP14	55033	broad.mit.edu	37	7	30066007	30066007	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:30066007G>A	ENST00000222803.5	-	1	293	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	40					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TTGGTCTTGCGATGGCAGATG	0.468000													8	119					0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531255	16531255	+	Splice_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:16531255C>T	ENST00000270747.3	-	12	2042	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	636	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CCGACTCACTCCTTCCGCCGA	0.617000													10	20					0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937257	91937257	+	Missense_Mutation	SNP	C	C	G	rs148837810		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:91937257C>G	ENST00000554684.1	-	10	2041	c.1545G>C	c.(1543-1545)aaG>aaC	p.K515N	SMEK1_ENST00000337238.4_Missense_Mutation_p.K515N|SMEK1_ENST00000554943.1_Missense_Mutation_p.K528N|SMEK1_ENST00000428424.2_Missense_Mutation_p.K289N|SMEK1_ENST00000555462.1_Missense_Mutation_p.K289N	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	528						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TAATGTAGTTCTTTATGTGGT	0.358000													18	65					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115166229	115166229	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:115166229C>T	ENST00000393274.1	-	5	1467	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	DENND2C_ENST00000393277.1_Missense_Mutation_p.R281Q|DENND2C_ENST00000393276.3_Missense_Mutation_p.R281Q|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	281										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCCGATTTCGAAAGTGCTG	0.303000													4	42					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231978477	231978477	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:231978477G>A	ENST00000258400.3	-	3	1031	c.519C>T	c.(517-519)ttC>ttT	p.F173F	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	173			F -> L (in dbSNP:rs77570025).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TAATCTTGATGAATGCTGTAG	0.428000													12	229					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183914	11183914	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:11183914G>A	ENST00000390675.2	-	1	92	c.21C>T	c.(19-21)atC>atT	p.I7I	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	7					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TGGAAAAAATGATGGGTATAA	0.398000													5	71					0	0	1	0	0
P2RX1	5023	broad.mit.edu	37	17	3801112	3801112	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:3801112G>C	ENST00000225538.3	-	12	1470	c.1196C>G	c.(1195-1197)tCc>tGc	p.S399C		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	399					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGAGCATCAGGATGTCCTCAT	0.642000													8	17					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47614422	47614422	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr21:47614422C>T	ENST00000397728.3	-	20	2049	c.1971G>A	c.(1969-1971)atG>atA	p.M657I	LSS_ENST00000457828.2_Missense_Mutation_p.M577I|LSS_ENST00000522411.1_Missense_Mutation_p.M646I|LSS_ENST00000356396.4_Missense_Mutation_p.M657I	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	657					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCATCAGCCCCATCATGGCCC	0.632000													4	34					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497183	52497183	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:52497183G>C	ENST00000602063.1	-	6	1495	c.1146C>G	c.(1144-1146)acC>acG	p.T382T	ZNF615_ENST00000598071.1_Silent_p.T393T|ZNF615_ENST00000391795.3_Silent_p.T387T|ZNF615_ENST00000594083.1_Silent_p.T393T|ZNF615_ENST00000376716.5_Silent_p.T382T			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTTCTTCAAGGTGAAGCCTT	0.398000													10	93					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13056771	13056771	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:13056771C>T	ENST00000586534.1	+	1	70	c.9C>T	c.(7-9)gtC>gtT	p.V3V	RAD23A_ENST00000316856.3_Silent_p.V3V|RAD23A_ENST00000592268.1_Silent_p.V3V|RAD23A_ENST00000541222.1_5'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	3	Ubiquitin-like.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCATGGCCGTCACCATCACGC	0.726000								Nucleotide excision repair (NER)					4	31					0	0	1	0	0
PSMB8	5696	broad.mit.edu	37	6	32810816	32810816	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32810816C>T	ENST00000374881.2	-	2	475	c.186G>A	c.(184-186)caG>caA	p.Q62Q	PSMB8_ENST00000374882.3_Silent_p.Q66Q|PSMB8_ENST00000395339.3_Silent_p.Q66Q	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	66					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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						CCATCTCAATCTGAACGTTCC	0.507000													7	69					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29070328	29070328	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:29070328G>A	ENST00000373812.3	+	4	1908	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	YTHDF2_ENST00000542507.1_Missense_Mutation_p.E516K|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.E466K	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	516	YTH.				humoral immune response			p.E516Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCGCCTAGAGAACAACGA	0.478000													6	94					0	0	1	0	0
UST	10090	broad.mit.edu	37	6	149262491	149262491	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:149262491G>A	ENST00000367463.4	+	3	471	c.368G>A	c.(367-369)aGa>aAa	p.R123K		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	123					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		TTGCTTCTGAGAATCTTGTCG	0.438000													9	159					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425216	74425216	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:74425216G>C	ENST00000361742.3	+	4	890	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ISLR2_ENST00000565159.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000445793.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000565540.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000435464.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000453268.2_Missense_Mutation_p.E41Q|ISLR2_ENST00000419208.1_Missense_Mutation_p.E41Q|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	41	LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCTTACAAAGAGTTGCGTGA	0.637000													10	89					0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71797676	71797676	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr18:71797676G>A	ENST00000269500.5	-	4	657	c.322C>T	c.(322-324)Cca>Tca	p.P108S	FBXO15_ENST00000419743.2_Missense_Mutation_p.P184S	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	108										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTCTTAACTGGAAGGCCTGTG	0.433000													8	74					0	0	1	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746739	111746739	+	Missense_Mutation	SNP	C	C	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:111746739C>A	ENST00000260257.4	-	5	829	c.782G>T	c.(781-783)aGg>aTg	p.R261M	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R112M|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	261					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ACACTTCAGCCTTTTTAGCGG	0.423000													19	108					1.67942e-08	1.74279e-08	1	1	0
TUBBP5	643224	broad.mit.edu	37	9	141070824	141070824	+	RNA	SNP	T	T	G	rs9410092	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:141070824T>G	ENST00000503395.1	+	0	1599																											TCTGGGATGGTTACCCTCCTC	0.582000													4	48					0	0	1	0	0
IL15RA	3601	broad.mit.edu	37	10	5995118	5995118	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:5995118C>T	ENST00000525219.2	-	7	930	c.636G>A	c.(634-636)ccG>ccA	p.P212P	IL15RA_ENST00000528354.1_Silent_p.P215P|IL15RA_ENST00000397251.3_Silent_p.P183P|IL15RA_ENST00000379977.3_Silent_p.P248P|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000397250.2_Silent_p.P150P|IL15RA_ENST00000379971.1_3'UTR|IL15RA_ENST00000397248.2_Silent_p.P212P	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	248					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	p.P248P(1)		cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCAAGTCACCGGCAGAGCCT	0.557000													12	82					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677353	3677353	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:3677353C>T	ENST00000344754.4	-	10	2562	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E855K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	855	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GAGTTGGCCTCAGCTTTAGCC	0.617000													7	126					0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237074842	237074842	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:237074842G>T	ENST00000306318.4	-	2	1159	c.762C>A	c.(760-762)ttC>ttA	p.F254L	GBX2_ENST00000551105.1_3'UTR|GBX2_ENST00000465889.1_5'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	254						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GCTCGCTGGTGAAGGCAGTCC	0.672000													8	61					0.000274275	0.000280654	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55652900	55652900	+	Splice_Site	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:55652900G>A	ENST00000449290.2	+	2	88		c.e2-1			NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51							intracellular	zinc ion binding										TTCTTCTTCAGAAACATGAAT	0.453000													8	169					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163377	32163377	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:32163377G>A	ENST00000375023.3	-	30	5987	c.5849C>T	c.(5848-5850)cCc>cTc	p.P1950L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1950					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAATCACAGGGCCAGTCATC	0.647000													13	111					0	0	1	0	0
MRPS27	23107	broad.mit.edu	37	5	71516873	71516873	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:71516873C>G	ENST00000261413.5	-	11	1147	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q	MRPS27_ENST00000513900.1_Missense_Mutation_p.E384Q|MRPS27_ENST00000457646.4_Missense_Mutation_p.E314Q	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	370						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		GCGATGTCCTCTGCTTCACAG	0.483000													6	107					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14756871	14756871	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:14756871G>A	ENST00000253697.3	+	9	1841	c.1389G>A	c.(1387-1389)tgG>tgA	p.W463*	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Nonsense_Mutation_p.W341*|C3orf20_ENST00000412910.1_Nonsense_Mutation_p.W341*	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	463						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCCACAAGTGGAGCTGGACTT	0.537000													7	68					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171404524	171404524	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:171404524G>A	ENST00000351298.4	-	16	1944	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L	PLD1_ENST00000342215.6_Intron|PLD1_ENST00000340989.4_Silent_p.L606L|PLD1_ENST00000356327.5_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	606	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACGGGTGAAAGAGTTTGAAGT	0.368000													17	185					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30731577	30731577	+	Missense_Mutation	SNP	G	G	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:30731577G>T	ENST00000262518.4	+	19	3297	c.2912G>T	c.(2911-2913)cGc>cTc	p.R971L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R971L|SRCAP_ENST00000344771.4_Missense_Mutation_p.R971L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	971					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CGCCTCTCTCGCCGGGTACTG	0.567000													43	212					5.44703e-19	5.76128e-19	1	1	0
AAR2	25980	broad.mit.edu	37	20	34828021	34828021	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:34828021C>T	ENST00000373932.3	+	2	577	c.231C>T	c.(229-231)ttC>ttT	p.F77F	AAR2_ENST00000397286.3_Silent_p.F77F|AAR2_ENST00000320849.4_Silent_p.F77F	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		GTATGGGTTTCTTCCTTAGCC	0.597000													6	102					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143018480	143018480	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:143018480G>A	ENST00000343257.2	+	4	543	c.456G>A	c.(454-456)caG>caA	p.Q152Q		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	152					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCTACGCGCAGATGCAGCCCA	0.617000													6	46					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45140739	45140739	+	Translation_Start_Site	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr20:45140739C>T	ENST00000347606.4	-	2	185	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF334_ENST00000457685.2_5'UTR	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTTCATTTTCATGTTCTCTT	0.403000													8	71					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62502215	62502215	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:62502215C>T	ENST00000225792.5	-	1	424	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	DDX5_ENST00000450599.2_Missense_Mutation_p.R8Q	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	8					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GCCGCGGTCTCGGTCACTCGA	0.652000			T	ETV4	prostate								4	9					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	20					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4305978	4305978	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:4305978G>A	ENST00000221856.6	+	2	198	c.51G>A	c.(49-51)gtG>gtA	p.V17V	FSD1_ENST00000597590.1_Silent_p.V17V	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	17					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGGCTGTGAAGAATGAAG	0.537000													19	58					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67793052	67793052	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:67793052G>A	ENST00000335894.4	+	21	3118	c.3052G>A	c.(3052-3054)Gat>Aat	p.D1018N	IQCH_ENST00000358767.3_3'UTR|IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_3'UTR|IQCH_ENST00000546225.1_Missense_Mutation_p.D675N	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	1018										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ACAGTCCAAAGATGATAAAAA	0.328000													7	57					0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64669802	64669802	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:64669802G>C	ENST00000421419.2	-	28	3954	c.3840C>G	c.(3838-3840)atC>atG	p.I1280M	ATG2A_ENST00000377264.3_Missense_Mutation_p.I1278M			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1278							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACGCTGGTTGATGAGGGCCG	0.672000													3	18					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881392	37881392	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:37881392A>G	ENST00000406381.2	+	23	3004	c.2494A>G	c.(2494-2496)Aca>Gca	p.T832A	ERBB2_ENST00000540147.1_Missense_Mutation_p.T832A|ERBB2_ENST00000584601.1_Missense_Mutation_p.T832A|ERBB2_ENST00000269571.5_Missense_Mutation_p.T862A|ERBB2_ENST00000541774.1_Missense_Mutation_p.T847A|ERBB2_ENST00000445658.2_Missense_Mutation_p.T586A|ERBB2_ENST00000584450.1_Missense_Mutation_p.T862A	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	862	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T862A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTCAAAATTACAGACTTCGG	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			15	72					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23418665	23418665	+	Missense_Mutation	SNP	C	C	T	rs141739515	by1000genomes	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:23418665C>T	ENST00000302291.4	-	4	2891	c.2090G>A	c.(2089-2091)cGa>cAa	p.R697Q	LUZP1_ENST00000374623.3_Missense_Mutation_p.R697Q|LUZP1_ENST00000418342.1_Missense_Mutation_p.R697Q|LUZP1_ENST00000314174.5_Missense_Mutation_p.R697Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	697						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTGCCCCTCGGGTTTTAGC	0.463000													19	382					0	0	1	0	0
CDK2	1017	broad.mit.edu	37	12	56361840	56361840	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:56361840G>A	ENST00000266970.4	+	3	442	c.202G>A	c.(202-204)Gat>Aat	p.D68N	CDK2_ENST00000553376.1_Missense_Mutation_p.D68N|CDK2_ENST00000440311.2_Missense_Mutation_p.D42N|CDK2_ENST00000354056.4_Missense_Mutation_p.D68N|CDK2_ENST00000556656.1_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	68	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TAGGCTGCTGGATGTCATTCA	0.443000													16	104					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407457	2407457	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chrX:2407457T>C	ENST00000381223.4	-	2	1507	c.1304A>G	c.(1303-1305)aAc>aGc	p.N435S	ZBED1_ENST00000381218.3_Missense_Mutation_p.N435S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.N435S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	435						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTCCTTGATGTTGAGCGTGGT	0.587000													13	88					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434606	110434606	+	Silent	SNP	T	T	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr13:110434606T>G	ENST00000375856.3	-	1	4309	c.3795A>C	c.(3793-3795)ccA>ccC	p.P1265P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1265	Poly-Pro.				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			gcggctggggtggcagcCCGG	0.701000													8	12					0	0	1	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910720	108910720	+	Missense_Mutation	SNP	G	G	C	rs144954759		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:108910720G>C	ENST00000326853.5	+	3	640	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	SULT1C2_ENST00000409880.1_Missense_Mutation_p.E63Q|SULT1C2_ENST00000251481.6_Missense_Mutation_p.E63Q|SULT1C2_ENST00000437390.2_Missense_Mutation_p.E63Q	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGATATGATTGAACAGAATGG	0.517000													9	188					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122259634	122259634	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:122259634G>A	ENST00000462315.1	-	8	1743	c.1450C>T	c.(1450-1452)Ctg>Ttg	p.L484L	PARP9_ENST00000492382.1_Silent_p.L64L|PARP9_ENST00000477522.2_Silent_p.L484L|PARP9_ENST00000471785.1_Silent_p.L484L|PARP9_ENST00000360356.2_Silent_p.L519L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	519	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AATCCCATCAGATTGATGGCA	0.438000													9	161					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82585237	82585237	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:82585237C>T	ENST00000333891.9	-	5	5369	c.5032G>A	c.(5032-5034)Gat>Aat	p.D1678N	PCLO_ENST00000423517.2_Missense_Mutation_p.D1678N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAATATTTATCTGCTATTGTA	0.388000													5	89					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30439221	30439221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr21:30439221G>A	ENST00000286788.4	-	5	759	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	CCT8_ENST00000540844.1_Nonsense_Mutation_p.Q112*|CCT8_ENST00000542732.1_Nonsense_Mutation_p.Q166*|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	185					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						CCGCATGCCTGAGCAATAAGC	0.328000													4	62					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32091004	32091004	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:32091004G>A	ENST00000438447.1	+	20	7838	c.7450G>A	c.(7450-7452)Gag>Aag	p.E2484K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E2484K			O15018	PDZD2_HUMAN	PDZ domain containing 2	2484					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAGCTCCAGGAGCTGAGAGC	0.592000													12	171					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21716257	21716257	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:21716257C>T	ENST00000261195.2	-	6	1100	c.846G>A	c.(844-846)ttG>ttA	p.L282L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	282					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTTAACATTCAAGCCGTTTG	0.333000													6	102					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70505042	70505042	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:70505042G>A	ENST00000310961.5	+	22	3854	c.3436G>A	c.(3436-3438)Gat>Aat	p.D1146N	LRRC7_ENST00000035383.5_Missense_Mutation_p.D1141N|LRRC7_ENST00000415775.2_Missense_Mutation_p.D425N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						centrosome|focal adhesion|nucleolus	protein binding	p.D1141N(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCCCCAACTGATAGGTACGG	0.572000													40	112					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54901657	54901657	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:54901657C>G	ENST00000293373.6	+	4	406	c.327C>G	c.(325-327)ctC>ctG	p.L109L	NCKAP1L_ENST00000545638.2_Silent_p.L59L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	109					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGAACTTCTCAACACCATTG	0.423000													42	158					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													4	59					0	0	1	0	0
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:133524732G>A	ENST00000466490.2	+	2	325	c.40G>A	c.(40-42)Ggt>Agt	p.G14S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	14						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGATGGCGGCGGTGCCGGGGG	0.672000													21	61					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr8:125113410C>T	ENST00000522917.1	+	38	5162	c.4956C>T	c.(4954-4956)aaC>aaT	p.N1652N	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.N1652N	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1652	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAGAGGGCAACTTCAACTGGC	0.433000													9	79					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069074	205069074	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:205069074G>A	ENST00000264515.6	-	8	1012	c.871C>T	c.(871-873)Cat>Tat	p.H291Y	RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	291					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTCGTCCCATGGAGAATCTTC	0.458000													47	196					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606383	84606383	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:84606383C>T	ENST00000344803.2	+	4	1045	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTAGGTGGCTCTGGTGGGTCA	0.483000													9	161					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558346	106558346	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:106558346G>C	ENST00000526355.2	-	8	2596	c.2128C>G	c.(2128-2130)Ctt>Gtt	p.L710V	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L731V|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L741V	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GACGAAGAAAGAGAAGGCTTT	0.488000													16	154					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785494	111785494	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:111785494G>C	ENST00000261726.6	+	22	3980	c.3826G>C	c.(3826-3828)Gag>Cag	p.E1276Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGGAACTGGAGCTTCAGGA	0.617000													10	66					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23526534	23526534	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:23526534G>A	ENST00000296682.3	+	11	1519	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	446					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.S446N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GATCCACACAGCCGTAATGAC	0.473000										HNSCC(3;0.000094)			69	67					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238236	69238236	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr15:69238236C>G	ENST00000310673.3	+	2	517	c.363C>G	c.(361-363)ttC>ttG	p.F121L	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	121					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GTACCCCATTCTGGTCGATCA	0.428000													11	70					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35716479	35716479	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35716479C>T	ENST00000314888.9	-	20	2886	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	TLN1_ENST00000540444.1_Missense_Mutation_p.E845K	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	845					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTTTCCCCCTCAGCATCAGCC	0.572000													9	138					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77539723	77539723	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:77539723C>G	ENST00000416283.2	+	7	797	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PHTF2_ENST00000450574.1_Nonsense_Mutation_p.S224*|PHTF2_ENST00000424760.1_Nonsense_Mutation_p.S220*|PHTF2_ENST00000415251.2_Nonsense_Mutation_p.S220*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.S220*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S224*|PHTF2_ENST00000248550.7_Nonsense_Mutation_p.S258*|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S220*|PHTF2_ENST00000454592.1_3'UTR	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCTTTTTATCAGGGTTTGTA	0.398000													3	29					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128674	248128674	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:248128674C>T	ENST00000366480.3	+	1	140	c.41C>T	c.(40-42)tCa>tTa	p.S14L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATTTTGGTTTCAGCCATGAAA	0.343000													7	110					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000230	14000230	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:14000230G>A	ENST00000454313.1	-	6	1497	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	C19orf57_ENST00000586783.1_Missense_Mutation_p.S480F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.S480F			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	480					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAGCACAACAGAGGCTTGCGG	0.607000													11	116					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50708622	50708622	+	Silent	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr10:50708622C>G	ENST00000355832.5	-	7	1725	c.1647G>C	c.(1645-1647)ctG>ctC	p.L549L	ERCC6_ENST00000542458.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	549	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCTGTAGCTCAGACCTGCCA	0.483000								Direct reversal of damage;Nucleotide excision repair (NER)					13	114					0	0	1	0	0
MIEF2	125170	broad.mit.edu	37	17	18167950	18167950	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:18167950G>C	ENST00000323019.4	+	4	1448	c.1237G>C	c.(1237-1239)Gag>Cag	p.E413Q	MIEF2_ENST00000395706.2_Missense_Mutation_p.E424Q|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2			mitochondrial elongation factor 2	413																	CGGCAGCCTGGAGCAGGCCAG	0.622000													6	55					0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138822675	138822675	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:138822675G>A	ENST00000464848.1	+	3	304	c.224G>A	c.(223-225)aGa>aAa	p.R75K	TTC26_ENST00000495038.1_Missense_Mutation_p.R75K|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.R75K|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000478836.2_Missense_Mutation_p.R75K|TTC26_ENST00000474035.2_Missense_Mutation_p.R75K			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	75							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GACTACAAGAGAGCTCTGGAG	0.313000													6	114					0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107067168	107067168	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr6:107067168G>C	ENST00000539449.1	-	4	1005	c.529C>G	c.(529-531)Caa>Gaa	p.Q177E	RTN4IP1_ENST00000369063.3_Missense_Mutation_p.Q177E			Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	177						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAGGCAGCTTGAGTATGAGTG	0.413000													10	78					0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29325811	29325811	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:29325811C>G	ENST00000328381.5	+	5	1774	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	301	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TTCTACCAGCCAGGTCTTATG	0.557000													7	72					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40823447	40823447	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:40823447C>T	ENST00000293349.6	-	8	1636	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	PLEKHH3_ENST00000412503.1_Silent_p.Q402Q|PLEKHH3_ENST00000591022.1_Silent_p.Q402Q|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	402					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACAGCAGCTCCTGCCGTTGGC	0.677000													5	41					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161132715	161132715	+	Silent	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:161132715G>A	ENST00000368002.3	+	7	1277	c.900G>A	c.(898-900)caG>caA	p.Q300Q	USP21_ENST00000368001.1_Silent_p.Q300Q|USP21_ENST00000289865.8_Silent_p.Q300Q	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	300					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTAGCCAGCAGGATGCCCAAG	0.557000													9	78					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882660	228882660	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:228882660C>T	ENST00000392056.3	-	7	2956	c.2910G>A	c.(2908-2910)atG>atA	p.M970I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.M970I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	970						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CGTTGGGTGTCATCAGAAACT	0.527000													13	98					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892894	44892894	+	Silent	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:44892894G>C	ENST00000341255.3	-	2	1052	c.543C>G	c.(541-543)ctC>ctG	p.L181L		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	181										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCGCATGCCGGAGCGGAGACT	0.622000													19	29					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													6	96					0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35062058	35062058	+	Silent	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr9:35062058C>T	ENST00000358901.6	-	9	1918	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	341					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCATAACAATCACATGTGCCC	0.527000													14	85					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871751	149871751	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:149871751G>A	ENST00000369153.2	+	3	803	c.139G>A	c.(139-141)Gag>Aag	p.E47K	BOLA1_ENST00000476344.1_3'UTR|BOLA1_ENST00000369152.5_Missense_Mutation_p.E47K|BOLA1_ENST00000369150.1_Missense_Mutation_p.E47K			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	47						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTGAGCCCCGAGGTGCTAGA	0.677000													4	36					0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49954759	49954759	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:49954759C>T	ENST00000262265.5	-	1	308	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PIH1D1_ENST00000596049.1_Missense_Mutation_p.E25K	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	25					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		AGCAGCTCCTCAAATCGCGCC	0.602000													6	90					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33255473	33255473	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:33255473C>G	ENST00000309558.3	-	2	654	c.237G>C	c.(235-237)caG>caC	p.Q79H		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	79	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AGGAGCAATCCTGTACCACTC	0.582000													5	101					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077358	19077358	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:19077358G>A	ENST00000329773.2	-	2	679	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	198					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GACCCACAGAGAACCATGAAT	0.517000													7	63					0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233421234	233421234	+	Missense_Mutation	SNP	G	G	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:233421234G>C	ENST00000409514.1	+	2	171	c.129G>C	c.(127-129)aaG>aaC	p.K43N	EIF4E2_ENST00000409167.3_Missense_Mutation_p.K43N|EIF4E2_ENST00000258416.3_Missense_Mutation_p.K43N|EIF4E2_ENST00000409322.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409495.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000479834.1_3'UTR|EIF4E2_ENST00000409098.1_Missense_Mutation_p.K43N|EIF4E2_ENST00000409394.1_Missense_Mutation_p.K43N	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	43					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCAGTAGCAAGAGAAAGGTGA	0.408000													4	23					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65146982	65146982	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:65146982G>A	ENST00000371073.2	+	25	3448	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	CACHD1_ENST00000290039.5_Missense_Mutation_p.E1099K|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1150					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGACAGAGATGAAAGGGACGA	0.428000													7	126					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17746845	17746845	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:17746845G>A	ENST00000428389.2	-	27	3466	c.3467C>T	c.(3466-3468)cCc>cTc	p.P1156L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P1066L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1068L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1068L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1068L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1068L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1068	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTTGAGGCAGGGAGTGTAGGA	0.448000													6	20					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604194	111604194	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:111604194G>A	ENST00000431670.2	+	2	1681	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000477695.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000478922.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.D424N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.D424N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.D451N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	424						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGACGTGATGACCTGATGGA	0.522000													10	113					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033729	82033729	+	Missense_Mutation	SNP	C	C	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr16:82033729C>G	ENST00000328945.5	-	3	296	c.169G>C	c.(169-171)Gac>Cac	p.D57H	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	57					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGGCGGATGTCTCCTTGTATA	0.498000													13	156					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1704306	1704306	+	Missense_Mutation	SNP	C	C	T	rs151287405		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr17:1704306C>T	ENST00000305513.7	-	5	549	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	128							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGTTAATGTCTTTAAGACAC	0.418000													14	137					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431407	38431407	+	Missense_Mutation	SNP	T	T	C			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:38431407T>C	ENST00000356264.2	-	19	2035	c.1820A>G	c.(1819-1821)gAc>gGc	p.D607G	AMPH_ENST00000325590.5_Missense_Mutation_p.D565G|AMPH_ENST00000428293.2_Missense_Mutation_p.D565G	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	607					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGCTAGCTGGTCAGCAGCCCC	0.547000													5	45					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTAGCTTTTATCTCTTCTTT	0.269000													6	12					0	0	1	0	0
DESI1	27351	broad.mit.edu	37	22	42000121	42000121	+	Missense_Mutation	SNP	C	C	T			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr22:42000121C>T	ENST00000263256.6	-	4	473	c.217G>A	c.(217-219)Gat>Aat	p.D73N	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN	desumoylating isopeptidase 1	73	PPPDE peptidase.																CTCCCCACATCAACCACAGAG	0.507000													6	114					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587678	55587678	+	Silent	SNP	T	T	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:55587678T>A	ENST00000333976.4	+	1	593	c.573T>A	c.(571-573)tcT>tcA	p.S191S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTCTTGCTCTGATACTTACA	0.398000													16	133					0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147481356	147481356	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr5:147481356G>A	ENST00000359874.3	+	15	1388	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SPINK5_ENST00000256084.7_Missense_Mutation_p.E439K|SPINK5_ENST00000398454.1_Missense_Mutation_p.E439K	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	439	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTGTAGTGAATACCGCAA	0.428000													8	76					0	0	1	0	0
AKR1B15	441282	broad.mit.edu	37	7	134260673	134260673	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:134260673G>A	ENST00000457545.2	+	8	997	c.737G>A	c.(736-738)aGa>aAa	p.R246K	AKR1B15_ENST00000423958.1_Missense_Mutation_p.R218K	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	246							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						TCTCCGGATAGACCTTGGTGA	0.478000													4	26					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38591869	38591869	+	Silent	SNP	A	A	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr3:38591869A>G	ENST00000413689.1	-	28	6187	c.5994T>C	c.(5992-5994)agT>agC	p.S1998S	SCN5A_ENST00000333535.4_Silent_p.S1998S|SCN5A_ENST00000414099.2_Silent_p.S1980S|SCN5A_ENST00000423572.2_Silent_p.S1997S|SCN5A_ENST00000455624.2_Silent_p.S1965S|SCN5A_ENST00000443581.1_Silent_p.S1997S|SCN5A_ENST00000425664.1_Silent_p.S1980S|SCN5A_ENST00000450102.2_Silent_p.S1944S|SCN5A_ENST00000449557.2_Silent_p.S1944S|SCN5A_ENST00000451551.2_Silent_p.S1944S	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1998					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAGATCTTCACTGTGGCTGT	0.597000													15	91					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102499087	102499087	+	Missense_Mutation	SNP	G	G	A			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr2:102499087G>A	ENST00000413150.2	+	24	2825	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	MAP4K4_ENST00000347699.4_Missense_Mutation_p.E1009K|MAP4K4_ENST00000456652.1_Missense_Mutation_p.E808K|MAP4K4_ENST00000425019.1_Missense_Mutation_p.E1042K|MAP4K4_ENST00000302217.5_Missense_Mutation_p.E812K|MAP4K4_ENST00000350878.4_Missense_Mutation_p.E1049K|MAP4K4_ENST00000350198.4_Missense_Mutation_p.E928K|MAP4K4_ENST00000324219.4_Missense_Mutation_p.E1090K	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1009	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGAAGTTGAGAAGAAGCA	0.333000													6	104					0	0	1	0	0
RP4-663N10.1	0	broad.mit.edu	37	1	115828508	115828508	+	RNA	DEL	A	A	-			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:115828508delA	ENST00000425449.1	+	0	207																											GATTTTACTCAAAAAAAATAA	0.408													2	4	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137698	121137699	+	RNA	INS	-	-	TT	rs57730437		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:121137698_121137699insTT	ENST00000437515.1	-	0	329					NR_104189.1																						CTACTTACATCTTTTTGTCTTT	0.441													7	34	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	468	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													3	2	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													6	3	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA			TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312													4	7	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtgccg>gtg	p.P299del	TMEM121_ENST00000431372.1_In_Frame_Del_p.P299del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	299	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													4	2	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703996	+	RNA	DEL	TT	TT	-	rs113703393		TCGA-GC-A3OO-01A-11D-A22Z-08	TCGA-GC-A3OO-10C-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ca635e2-a609-46a9-ab15-12ddb5233a68	5c5ecfa1-e4bd-492c-bfff-5e4667637469	g.chr19:53703995_53703996delTT	ENST00000597550.1	+	0	232																											TGTTTCCCCCtttttttttttt	0.475													3	5	---	---	---	---					
