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
LINC00521	256369	broad.mit.edu	37	14	94464527	94464527	+	RNA	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:94464527A>C	ENST00000444118.1	+	0	207					NR_024182.1																						AATCCTGGTGACAAGGAAGGG	0.612000													12	27					0	0	1	0	0
ANKMY2	57037	broad.mit.edu	37	7	16666772	16666772	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:16666772T>A	ENST00000306999.2	-	3	407	c.164A>T	c.(163-165)tAt>tTt	p.Y55F		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	55						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTTTCCTTTATATGCTGCATG	0.353000													10	25					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419606	30419606	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:30419606G>A	ENST00000375994.2	+	10	1798	c.1525G>A	c.(1525-1527)Gta>Ata	p.V509I	MYLK2_ENST00000375985.4_Missense_Mutation_p.V509I|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	509	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGAGGCCGTATCAGACGA	0.522000													30	91					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272779	65272779	+	RNA	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:65272779T>C	ENST00000534336.1	+	0	7547					NR_002819.2																						TCACCTGATTTTTATTAGTAA	0.458000													11	29					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924439	43924439	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:43924439G>T	ENST00000396879.1	-	13	1625	c.1513C>A	c.(1513-1515)Cag>Aag	p.Q505K	CATSPER2_ENST00000381761.1_Missense_Mutation_p.Q511K|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000321596.5_Missense_Mutation_p.Q507K|CATSPER2_ENST00000354127.4_Missense_Mutation_p.Q505K|CATSPER2_ENST00000355438.2_3'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	507					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGGTTATACTGAAGCTTTTCT	0.443000													6	148					0.0215528	0.0219482	1	1	0
CPS1	1373	broad.mit.edu	37	2	211539661	211539661	+	Silent	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:211539661A>G	ENST00000233072.5	+	35	4333	c.4137A>G	c.(4135-4137)gaA>gaG	p.E1379E	CPS1_ENST00000430249.2_Silent_p.E1385E|CPS1_ENST00000451903.2_Silent_p.E928E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1379					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTGTGGCTGAACAATTACACA	0.343000													26	85					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6195309	6195309	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:6195309C>T	ENST00000262450.3	-	18	2950	c.2851G>A	c.(2851-2853)Gag>Aag	p.E951K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	951					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCAGCTCCACCCGGACA	0.632000													10	89					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31075550	31075550	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:31075550G>A	ENST00000538906.1	-	2	1015	c.231C>T	c.(229-231)tcC>tcT	p.S77S	ZNF668_ENST00000539836.3_Silent_p.S100S|ZNF668_ENST00000394983.2_Silent_p.S77S|ZNF668_ENST00000300849.4_Silent_p.S77S|ZNF668_ENST00000535577.1_Silent_p.S77S|ZNF668_ENST00000426488.2_Silent_p.S100S	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTTGGCCGCGGAGCCTGACA	0.652000													27	54					0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923742	92923742	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:92923742G>A	ENST00000327111.3	+	2	2270	c.583G>A	c.(583-585)Gcc>Acc	p.A195T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	195					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTGCTGCGCGCCGAGCCCTA	0.652000													45	69					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570087	241570087	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:241570087C>T	ENST00000319838.5	+	6	1660	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	GPR35_ENST00000438013.2_Missense_Mutation_p.R271C|GPR35_ENST00000407714.1_Missense_Mutation_p.R240C|GPR35_ENST00000403859.1_Missense_Mutation_p.R240C|GPR35_ENST00000430267.1_Missense_Mutation_p.R240C	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	240						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GCTGACAGTGCGCCTCGCAGT	0.667000													4	65					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776528	38776528	+	Silent	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:38776528A>G	ENST00000308973.4	-	4	1289	c.684T>C	c.(682-684)ttT>ttC	p.F228F	TLR10_ENST00000361424.2_Silent_p.F228F|TLR10_ENST00000506111.1_Silent_p.F228F|TLR10_ENST00000508334.1_Silent_p.F228F	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	228					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CATAACTTACAAATTGGCTTT	0.323000													12	21					0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340898	34340898	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:34340898C>T	ENST00000293280.2	-	3	258	c.188G>A	c.(187-189)gGa>gAa	p.G63E	CCL23_ENST00000591423.1_Splice_Site_p.R46_splice	NM_005064.3	NP_005055.2	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	46					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	AGCATGGAATCCTGCAGCATG	0.527000													20	44					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515925	195515925	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:195515925C>T	ENST00000463781.3	-	2	2985	c.2526G>A	c.(2524-2526)caG>caA	p.Q842Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.Q842Q|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	847	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTTGTTGACTGGGTTGTGT	0.562000													22	91					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582841	55582841	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:55582841C>A	ENST00000361849.3	-	34	5045	c.4651G>T	c.(4651-4653)Gta>Tta	p.V1551L	PCDH15_ENST00000395432.2_Missense_Mutation_p.V1509L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1549L|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1546L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1526L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1480L	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1549					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATGGGTCTACAAAATCTGTT	0.413000										HNSCC(58;0.16)			52	84					9.52127e-25	1.1009e-24	1	1	0
DGKQ	1609	broad.mit.edu	37	4	955594	955594	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:955594C>G	ENST00000273814.3	-	20	2417	c.2344G>C	c.(2344-2346)Gtg>Ctg	p.V782L		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	782					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCAGCCCCACCCGCACGTAC	0.647000													25	57					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13756720	13756720	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:13756720C>T	ENST00000202816.1	-	3	941	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	278	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						catcttcatcctcctcttcat	0.408000													24	91					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764725	13764725	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:13764725C>T	ENST00000279593.3	-	8	1923	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	572					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGACAGCCACGGCTGAGACG	0.537000													30	40					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154991185	154991185	+	Silent	SNP	G	G	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:154991185G>C	ENST00000368424.3	-	15	2215	c.2157C>G	c.(2155-2157)ccC>ccG	p.P719P		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	719	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTTCAGGTAAGGGCTGCTGCC	0.607000													20	52					0	0	1	0	0
DCP1A	55802	broad.mit.edu	37	3	53322224	53322224	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:53322224C>T	ENST00000607628.1	-	9	1642	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	DCP1A_ENST00000606822.1_Silent_p.Q473Q|DCP1A_ENST00000294241.6_Silent_p.Q509Q|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTGTAACTGTCTGCTGGAAAA	0.507000													10	37					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147525760	147525760	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:147525760G>A	ENST00000367481.3	+	1	200	c.92G>A	c.(91-93)gGg>gAg	p.G31E	STXBP5_ENST00000546097.1_Missense_Mutation_p.G31E|STXBP5_ENST00000321680.6_Missense_Mutation_p.G31E|STXBP5_ENST00000367480.3_Missense_Mutation_p.G31E	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	31					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CATCCGCCTGGGAACCGGGAG	0.617000													12	30					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71648884	71648884	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:71648884T>C	ENST00000226328.4	+	9	1534	c.971T>C	c.(970-972)cTg>cCg	p.L324P	RUFY3_ENST00000417478.2_Missense_Mutation_p.L384P|RUFY3_ENST00000502653.1_Missense_Mutation_p.L271P|RUFY3_ENST00000536664.1_Missense_Mutation_p.L308P|RUFY3_ENST00000381006.3_Missense_Mutation_p.L324P	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	324					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCTACATACTGGAATCCAAT	0.338000													4	18					0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167757148	167757148	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:167757148G>A	ENST00000359523.2	+	6	1002	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	MPZL1_ENST00000392121.3_Missense_Mutation_p.R117Q|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	267					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCGGATATCCGAAAGAATTAA	0.448000													5	94					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629945	9629945	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:9629945A>C	ENST00000382492.2	-	1	518	c.200T>G	c.(199-201)gTg>gGg	p.V67G	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	67					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GATAACAATCACATTAACGTA	0.388000													14	85					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45397973	45397973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr21:45397973C>T	ENST00000398063.2	+	7	1306	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	AGPAT3_ENST00000398058.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000398061.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000546158.1_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Nonsense_Mutation_p.Q272*|AGPAT3_ENST00000327505.2_Nonsense_Mutation_p.Q272*	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	272					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GGAAGCAGCTCAGTGGCTTCA	0.527000													14	49					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; 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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522000		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)			25	13					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152605145	152605145	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:152605145T>C	ENST00000367255.5	-	96	18776	c.18175A>G	c.(18175-18177)Atg>Gtg	p.M6059V	SYNE1_ENST00000356820.4_Missense_Mutation_p.M583V|SYNE1_ENST00000423061.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000448038.1_Missense_Mutation_p.M5988V|SYNE1_ENST00000341594.5_Missense_Mutation_p.M5671V|SYNE1_ENST00000265368.4_Missense_Mutation_p.M6059V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6059					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGGCTTTCATCCTGATGGTG	0.522000										HNSCC(10;0.0054)			14	58					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070996	70070996	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:70070996G>A	ENST00000370598.1	+	29	4652	c.3831G>A	c.(3829-3831)ttG>ttA	p.L1277L	BAI3_ENST00000546190.1_Silent_p.L241L|BAI3_ENST00000238918.8_Silent_p.L483L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1277					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATAGTGAATTGCGGAGAACTG	0.398000													12	93					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118865485	118865485	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:118865485T>A	ENST00000295622.1	+	1	489	c.449T>A	c.(448-450)tTa>tAa	p.L150*		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	150										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAACGAAGATTACCTACCCAG	0.498000													20	77					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20371553	20371553	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20371553G>T	ENST00000222573.3	+	1	808	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C	ITGB8_ENST00000537992.1_Intron	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	42					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTGGGCCAAGGTGGTAAGtt	0.542000													13	31					9.31168e-06	1.01333e-05	1	1	0
RYR3	6263	broad.mit.edu	37	15	34078150	34078150	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:34078150A>T	ENST00000389232.4	+	66	9626	c.9556A>T	c.(9556-9558)Atc>Ttc	p.I3186F	RYR3_ENST00000415757.3_Missense_Mutation_p.I3186F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3186					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACCTGGGCATCGATGAGGC	0.552000													60	285					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76949084	76949084	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:76949084T>A	ENST00000380887.2	+	5	841	c.769T>A	c.(769-771)Tgg>Agg	p.W257R	ESRRB_ENST00000556177.1_Missense_Mutation_p.W257R|ESRRB_ENST00000261532.7_Missense_Mutation_p.W257R|ESRRB_ENST00000509242.1_Missense_Mutation_p.W257R			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CATCATTGGCTGGGCCAAGCA	0.612000													24	32					0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263779	144263779	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:144263779G>A	ENST00000360537.2	-	5	2087	c.174C>T	c.(172-174)ccC>ccT	p.P58P	PLAGL1_ENST00000392307.1_Silent_p.P6P|PLAGL1_ENST00000367572.1_Silent_p.P6P|PLAGL1_ENST00000416623.1_Silent_p.P58P|PLAGL1_ENST00000367571.1_Silent_p.P58P|PLAGL1_ENST00000392309.1_Silent_p.P58P|PLAGL1_ENST00000444202.1_Silent_p.P58P|PLAGL1_ENST00000437412.1_Silent_p.P6P|PLAGL1_ENST00000429150.1_Silent_p.P58P|PLAGL1_ENST00000354765.2_Silent_p.P58P			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	58					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GAGATTTCTGGGGAGAATGGG	0.448000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	51					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573662	54573662	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr20:54573662C>A	ENST00000064571.2	-	3	1857	c.557G>T	c.(556-558)gGa>gTa	p.G186V		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	186	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTGCCAGCCTCCAACCAAATT	0.458000													29	45					7.26314e-15	8.14352e-15	1	1	0
AOC2	314	broad.mit.edu	37	17	40997475	40997475	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:40997475G>T	ENST00000253799.3	+	1	859	c.832G>T	c.(832-834)Ggc>Tgc	p.G278C	AOC2_ENST00000452774.2_Missense_Mutation_p.G278C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	278					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GTTTAAGTCTGGCCGGTTGGA	0.572000													25	81					1.55469e-16	1.76093e-16	1	1	0
HRNR	388697	broad.mit.edu	37	1	152187893	152187893	+	Missense_Mutation	SNP	C	C	T	rs147850915	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:152187893C>T	ENST00000368801.2	-	3	6287	c.6212G>A	c.(6211-6213)cGt>cAt	p.R2071H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2071					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCAGACCCACGCTGGCCGTG	0.632000													82	240					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96609684	96609684	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:96609684T>C	ENST00000371321.3	+	8	1242	c.1160T>C	c.(1159-1161)aTa>aCa	p.I387T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	387					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCACAACCATATTAACTTCC	0.398000													51	125					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74270123	74270123	+	Splice_Site	SNP	C	C	T	rs141733599		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:74270123C>T	ENST00000295897.4	+	1	168	c.79_splice	c.e1+1	p.H27_splice	ALB_ENST00000509063.1_Splice_Site_p.H27_splice|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Splice_Site_p.H27_splice|ALB_ENST00000415165.2_Splice_Site_p.H27_splice	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	27	Albumin 1.		H -> Q (in Nagasaki-3).|H -> Y (in Larino).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCGAGATGCACGTAAGAAATC	0.358000													20	55					0	0	1	0	0
LRR1	122769	broad.mit.edu	37	14	50069156	50069156	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:50069156G>T	ENST00000298288.6	+	2	576	c.252G>T	c.(250-252)aaG>aaT	p.K84N	LRR1_ENST00000557531.1_Intron|LRR1_ENST00000318317.4_Missense_Mutation_p.K84N	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	84										kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCGGTTAAAGGAGCCTCCTG	0.333000													23	58					1.12875e-08	1.24051e-08	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58701146	58701146	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:58701146T>A	ENST00000254286.4	+	13	1211	c.1131T>A	c.(1129-1131)taT>taA	p.Y377*	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	377						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CAAAGGAATATTATAATCAGA	0.378000													5	70					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809380	18809380	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:18809380A>C	ENST00000400664.1	+	1	1957	c.1905A>C	c.(1903-1905)gaA>gaC	p.E635D		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCAAGGAAATCTTCGTCA	0.706000													7	34					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141505	239141505	+	RNA	SNP	A	A	G	rs148845540		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:239141505A>G	ENST00000456601.1	+	0	906																											TTTTGGTGCAACAATTGGTTG	0.498000													5	57					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997513	19997513	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:19997513C>T	ENST00000391403.2	-	1	365	c.262G>A	c.(262-264)Gag>Aag	p.E88K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	88						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCCTCCTTCTCAAAGCTGGCA	0.363000													82	151					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645689	45645689	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:45645689C>A	ENST00000303230.4	-	2	504	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	149						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCATTATAAGCATTATTAAAT	0.318000													10	30					2.17888e-05	2.32553e-05	1	1	0
KIF26A	26153	broad.mit.edu	37	14	104642766	104642766	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr14:104642766C>T	ENST00000315264.7	+	11	3602	c.3224C>T	c.(3223-3225)cCg>cTg	p.P1075L	KIF26A_ENST00000423312.2_Missense_Mutation_p.P1214L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1214					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCGGAAACCGAGGACTGCC	0.721000													13	12					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158738284	158738284	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:158738284G>T	ENST00000407559.3	+	25	3173	c.3015G>T	c.(3013-3015)atG>atT	p.M1005I		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	1005										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGGTGGCCATGGCTGCGGTGG	0.607000													15	20					2.31682e-05	2.44921e-05	1	1	0
LEPREL1	55214	broad.mit.edu	37	3	189702338	189702338	+	Splice_Site	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:189702338C>T	ENST00000319332.5	-	7	1427		c.e7+1		LEPREL1_ENST00000427335.2_Splice_Site	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1						collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AATGGACTTACCGATTCTCAT	0.338000													30	117					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993242	28993242	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993242C>A	ENST00000359747.4	+	15	2893	c.2864C>A	c.(2863-2865)aCc>aAc	p.T955N	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.T936N	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTGTAGTAACCGAAGCAGTA	0.408000													60	90					6.20203e-27	7.32368e-27	1	1	0
DCBLD2	131566	broad.mit.edu	37	3	98538045	98538045	+	Splice_Site	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:98538045C>T	ENST00000326840.6	-	8	1450		c.e8+1		DCBLD2_ENST00000326857.9_Splice_Site	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2						cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TGTCTCTTAACCTGTTATTTT	0.318000													3	6					0	0	1	0	0
WTAPP1	100288077	broad.mit.edu	37	11	102702853	102702853	+	RNA	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:102702853C>G	ENST00000525739.2	+	0	1416					NR_038390.1																						CAGTCATATTCTCAGTCAAGG	0.488000													2	4					0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231287	61231287	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:61231287C>G	ENST00000382768.1	+	5	639	c.639C>G	c.(637-639)ttC>ttG	p.F213L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.F193L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	193					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGTTTACTTCAAGGCCAAAT	0.413000													6	77					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													3	36					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327454	16327454	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:16327454A>G	ENST00000244769.4	-	8	2024	c.1088T>C	c.(1087-1089)gTc>gCc	p.V363A	ATXN1_ENST00000436367.1_Missense_Mutation_p.V363A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	363					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCTCGGGTGGACCACCACGTG	0.682000													43	159					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322482	152322482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:152322482G>T	ENST00000243326.4	+	29	6931	c.6448G>T	c.(6448-6450)Gaa>Taa	p.E2150*	RIF1_ENST00000444746.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.E2150*|RIF1_ENST00000430328.2_Nonsense_Mutation_p.E2150*			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2150	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAACTAAGGGAACTTGATCC	0.443000													16	74					9.16793e-09	1.01764e-08	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837453	82837453	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:82837453A>T	ENST00000265077.3	+	8	9196	c.8631A>T	c.(8629-8631)aaA>aaT	p.K2877N	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.K1890N|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2877	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGACTTTCAAACCATCAAGTG	0.423000													6	92					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739445	62739445	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:62739445C>G	ENST00000371153.4	-	3	1709	c.1331G>C	c.(1330-1332)aGc>aCc	p.S444T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	444										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGCCCCCAGCTTTCAGACTC	0.557000													82	172					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41010033	41010033	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41010033G>T	ENST00000352632.3	+	12	1745	c.1659G>T	c.(1657-1659)gaG>gaT	p.E553D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E553D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E553D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E553D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	553					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGATGGAGGAGATGCAGGTGC	0.622000													7	36					0.0381472	0.038494	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747782	121747782	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:121747782C>T	ENST00000452319.1	+	14	4352	c.4292C>T	c.(4291-4293)cCg>cTg	p.P1431L	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1431L			P10070	GLI2_HUMAN	GLI family zinc finger 2	1431					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCCCAGCCGCCTCCGCAG	0.652000													52	52					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52597491	52597491	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:52597491C>T	ENST00000356770.4	-	23	3800	c.3798G>A	c.(3796-3798)caG>caA	p.Q1266Q	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Silent_p.Q1298Q|PBRM1_ENST00000409057.1_Silent_p.Q1298Q|PBRM1_ENST00000409114.3_Silent_p.Q1313Q|PBRM1_ENST00000394830.3_Silent_p.Q1273Q|PBRM1_ENST00000337303.4_Silent_p.Q1298Q|PBRM1_ENST00000409767.1_Silent_p.Q1313Q|PBRM1_ENST00000410007.1_Silent_p.Q1273Q			Q86U86	PB1_HUMAN	polybromo 1	1298	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGGCTCCTTCTGAGGAACAA	0.413000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	87					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151168850	151168850	+	Splice_Site	SNP	A	A	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr4:151168850A>T	ENST00000296550.7	+	13	2628	c.1875_splice	c.e13+1	p.K625_splice	DCLK2_ENST00000506325.1_Splice_Site_p.K624_splice|DCLK2_ENST00000302176.8_Splice_Site_p.K642_splice	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	625	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GACTCTGCCAAGGTACCCTCC	0.532000													14	48					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375895	113375895	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:113375895G>C	ENST00000316407.4	-	7	5044	c.4634C>G	c.(4633-4635)aCt>aGt	p.T1545S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.T1545S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1545	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATTGGTCAGTTCCATGGTG	0.512000													24	87					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48526799	48526799	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:48526799G>A	ENST00000340802.6	+	7	823	c.599G>A	c.(598-600)cGt>cAt	p.R200H	PFKM_ENST00000359794.5_Missense_Mutation_p.R129H|PFKM_ENST00000551804.1_Missense_Mutation_p.R129H|PFKM_ENST00000312352.7_Missense_Mutation_p.R129H|PFKM_ENST00000395233.2_Missense_Mutation_p.R129H|PFKM_ENST00000547587.1_Missense_Mutation_p.R129H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	129					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACACCTTCCGTTCTGAGTGG	0.527000													22	78					0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331717	140331717	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:140331717C>T	ENST00000371506.2	-	4	472	c.289G>A	c.(289-291)Gag>Aag	p.E97K	ENTPD8_ENST00000472938.1_Missense_Mutation_p.E97K|ENTPD8_ENST00000344119.2_Missense_Mutation_p.E97K	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	97						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGCAGGCTCTCACCAGCCTGT	0.637000													12	89					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50916759	50916759	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:50916759G>T	ENST00000440232.2	+	18	2284	c.2231G>T	c.(2230-2232)gGc>gTc	p.G744V	POLD1_ENST00000595904.1_Missense_Mutation_p.G770V|POLD1_ENST00000599857.1_Missense_Mutation_p.G744V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	744					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGGAGAATGGCTACAGCACC	0.637000								DNA polymerases (catalytic subunits)					4	16					0.150653	0.150653	1	1	0
BRDT	676	broad.mit.edu	37	1	92445292	92445292	+	Missense_Mutation	SNP	G	G	A	rs140481537		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:92445292G>A	ENST00000370389.2	+	8	1970	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	BRDT_ENST00000399546.2_Missense_Mutation_p.R422H|BRDT_ENST00000362005.3_Missense_Mutation_p.R422H|BRDT_ENST00000402388.1_Missense_Mutation_p.R422H|BRDT_ENST00000394530.3_Missense_Mutation_p.R376H	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	422	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CGAGTTAAGCGTCTTGCAAAG	0.373000													22	90					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104486509	104486509	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:104486509C>G	ENST00000369893.4	+	2	283	c.116C>G	c.(115-117)tCt>tGt	p.S39C	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	39					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GTCTTTGTATCTGAGCGGGAG	0.582000													6	69					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110256075	110256075	+	Silent	SNP	A	A	G	rs2479390	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:110256075A>G	ENST00000369813.1	+	2	929	c.24A>G	c.(22-24)caA>caG	p.Q8Q	GSTM5_ENST00000369812.5_Silent_p.Q68Q|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST N-terminal.|Glutathione binding (By similarity).				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TGGTGGCCCAACTGAGCTTCC	0.572000													6	149					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116413040	116413040	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr12:116413040C>G	ENST00000281928.3	-	25	5873	c.5667G>C	c.(5665-5667)atG>atC	p.M1889I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1889					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GTAGAGATGTCATTTGGACAA	0.443000													26	54					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973097	121973097	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr3:121973097G>A	ENST00000498619.1	+	2	499	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CASR_ENST00000490131.1_Missense_Mutation_p.G21R|CASR_ENST00000296154.5_Missense_Mutation_p.G21R	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	21			G -> R (could be associated with FHH).		anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCTGCCTACGGGCCAGACCA	0.527000													76	179					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54929599	54929599	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:54929599G>A	ENST00000396865.2	-	14	2004	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Silent_p.F408F|SLC38A9_ENST00000416547.2_Silent_p.F347F|SLC38A9_ENST00000318672.3_Silent_p.F471F|SLC38A9_ENST00000512595.1_Silent_p.F408F	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	471					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAATGTCACCGAAGATATGGC	0.483000													24	37					0	0	1	0	0
TMEM254	80195	broad.mit.edu	37	10	81838490	81838490	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:81838490G>A	ENST00000372281.3	+	1	65	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	TMEM254_ENST00000372275.1_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000448729.2_RNA|TMEM254_ENST00000372274.1_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000432070.2_RNA|TMEM254_ENST00000372277.3_Missense_Mutation_p.R12Q|TMEM254-AS1_ENST00000412298.1_RNA	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2			transmembrane protein 254																		TACTTTCAGCGAGGCAGTCTG	0.647000													4	9					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109550430	109550430	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr13:109550430A>G	ENST00000356711.2	+	15	1786	c.1660A>G	c.(1660-1662)Atc>Gtc	p.I554V	MYO16_ENST00000357550.2_Missense_Mutation_p.I554V|MYO16_ENST00000251041.5_Missense_Mutation_p.I554V|MYO16_ENST00000457511.2_Missense_Mutation_p.I66V	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	554	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGTTGCTTCATCAAGTATTT	0.463000													18	60					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177094	89177094	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:89177094G>A	ENST00000561129.2	+	1	140	c.10G>A	c.(10-12)Gct>Act	p.A4T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A4T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TATGGAGGCCGCTGCGGACGG	0.512000													20	19					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16358300	16358300	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:16358300C>G	ENST00000375692.1	+	17	1846	c.1718C>G	c.(1717-1719)tCc>tGc	p.S573C	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.S573C|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S530C|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S573C			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	573	CBS 1.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GTTGTGACCTCCACAGACGTG	0.607000													5	79					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49284782	49284782	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr15:49284782C>G	ENST00000559471.1	-	18	3228	c.2965G>C	c.(2965-2967)Gaa>Caa	p.E989Q	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E944Q	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	989										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						tcttcttcttcAAGCATGCCA	0.463000													26	53					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743121	26743121	+	Silent	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr11:26743121T>C	ENST00000396005.3	-	1	450	c.141A>G	c.(139-141)caA>caG	p.Q47Q	SLC5A12_ENST00000280467.6_Silent_p.Q47Q	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	47					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCTCATTTGCCTTCCCC	0.527000													28	75					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17426915	17426915	+	Silent	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:17426915G>A	ENST00000229922.2	+	3	748	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CAP2_ENST00000493172.1_Silent_p.E72E|CAP2_ENST00000489374.1_Silent_p.E72E|CAP2_ENST00000378990.2_Silent_p.E72E|CAP2_ENST00000465994.1_Silent_p.E72E	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	72					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGGACGTGGAGACCCATGTAA	0.493000													8	105					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245324	48245324	+	Missense_Mutation	SNP	G	G	C	rs145697858	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:48245324G>C	ENST00000262018.3	+	4	365	c.329G>C	c.(328-330)cGg>cCg	p.R110P	SGCA_ENST00000451235.2_Missense_Mutation_p.R8P|SGCA_ENST00000344627.6_Missense_Mutation_p.R110P|SGCA_ENST00000543315.1_Missense_Mutation_p.R110P|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	110					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GCCTACAATCGGGACAGCTTT	0.587000													35	122					0	0	1	0	0
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398000													4	37					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993243	28993243	+	Silent	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:28993243C>A	ENST00000359747.4	+	15	2894	c.2865C>A	c.(2863-2865)acC>acA	p.T955T	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.T936T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	936					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTAGTAACCGAAGCAGTAA	0.408000													59	92					4.09106e-26	4.78009e-26	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235367	3235367	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:3235367G>A	ENST00000217939.6	-	6	6509	c.6355C>T	c.(6355-6357)Cgc>Tgc	p.R2119C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2119	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTCATAGCGCCCGCTGTCC	0.662000													14	6					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41931832	41931832	+	Silent	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr19:41931832C>T	ENST00000321702.2	-	3	1305	c.852G>A	c.(850-852)cgG>cgA	p.R284R	CTC-435M10.6_ENST00000598887.1_RNA	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	284					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						CTCCTGGCTTCCGGAGAGGCA	0.657000													7	52					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186114607	186114607	+	Missense_Mutation	SNP	G	G	A	rs111360184		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:186114607G>A	ENST00000271588.4	+	92	14568	c.14339G>A	c.(14338-14340)cGg>cAg	p.R4780Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4780Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4780	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGATGCGGCGGTACCGCACA	0.557000													5	95					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32026159	32026159	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr6:32026159C>T	ENST00000375244.3	-	22	7702	c.7501G>A	c.(7501-7503)Gag>Aag	p.E2501K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2501K			P22105	TENX_HUMAN	tenascin XB	2561	Fibronectin type-III 17.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCACATCCTCTTGTGGGGCT	0.562000													7	25					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554539	140554539	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:140554539C>T	ENST00000231137.3	+	1	2297	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		708					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTGGCGGTGCGGCTG	0.697000													44	733					0	0	1	0	0
GLIPR2	152007	broad.mit.edu	37	9	36148600	36148600	+	Missense_Mutation	SNP	G	G	A	rs144250121	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:36148600G>A	ENST00000377960.4	+	3	213	c.179G>A	c.(178-180)cGt>cAt	p.R60H	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.R60H	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	60						extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						GAGTCCAGCCGTGGCCAGTGT	0.597000													6	8					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209104649	209104649	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr2:209104649C>A	ENST00000415913.1	-	8	1310	c.929G>T	c.(928-930)gGg>gTg	p.G310V	IDH1_ENST00000446179.1_Missense_Mutation_p.G310V|IDH1_ENST00000345146.2_Missense_Mutation_p.G310V			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	310					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GGTTACAGTCCCGTGGGCAGC	0.517000			Mis		gliobastoma								42	124					1.22674e-20	1.4038e-20	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141037995	141037995	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:141037995G>A	ENST00000239440.4	-	25	3528	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	ARAP3_ENST00000513878.1_Missense_Mutation_p.R817W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R986W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1155	Ras-associating.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCTGTCCCCCGCATCTCCAGT	0.567000													7	65					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080082	23080082	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:23080082T>C	ENST00000219689.7	-	16	3343	c.3344A>G	c.(3343-3345)cAg>cGg	p.Q1115R	USP31_ENST00000567975.1_Missense_Mutation_p.Q408R	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1115	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GGCTGACTTCTGCTTCTGTGG	0.602000													74	73					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20795117	20795117	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:20795117C>G	ENST00000404938.2	+	28	4296	c.3644C>G	c.(3643-3645)tCt>tGt	p.S1215C	ABCB5_ENST00000258738.6_Missense_Mutation_p.S770C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	770					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGCTCTCTGCAATTCAG	0.453000													7	43					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907763	907764	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:907763_907764insC	ENST00000379409.2	+	9	1147_1148	c.1117_1118insC	c.(1117-1119)cccfs	p.P373fs	PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.P321fs|PLEKHN1_ENST00000379407.2_Frame_Shift_Ins_p.P333fs			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	373										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CAGGGAGGGGGCCCCGCCGCTG	0.678													7	15	---	---	---	---					
LEPR	3953	broad.mit.edu	37	1	66075955	66075956	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:66075955_66075956insA	ENST00000349533.6	+	14	2156_2157	c.1971_1972insA	c.(1969-1974)gaaaaafs	p.EK657fs	LEPR_ENST00000371059.3_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000371058.1_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000371060.3_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000344610.8_Frame_Shift_Ins_p.EK657fs|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	657	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAAAAAGGAGAAAAATGTCAC	0.277													10	34	---	---	---	---					
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs150466708	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.4	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctg>ct	p.LALL22del	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718													5	6	---	---	---	---					
DENND4B	9909	broad.mit.edu	37	1	153907304	153907306	+	In_Frame_Del	DEL	TGT	TGT	-	rs2275483	by1000genomes	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr1:153907304_153907306delTGT	ENST00000361217.4	-	18	3121_3123	c.2703_2705delACA	c.(2701-2706)cag>ca	p.QQ909del		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	909	Gln-rich.							p.Q789Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgctgctgctgttgctgctgct	0.645													53	44	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													8	17	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													5	2	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6775132	6775133	+	RNA	INS	-	-	T	rs72390141		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr7:6775132_6775133insT	ENST00000486256.1	+	0	833					NR_002217.1																						GGTCATGTAAGTTTTTTTTTTT	0.401													3	6	---	---	---	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	CAG	-	rs113070757	byFrequency	TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:2039777_2039779delCAG	ENST00000382203.1	+	4	876_878	c.667_669delCAG	c.(667-669)del	p.Q238del	SMARCA2_ENST00000357248.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000349721.2_In_Frame_Del_p.Q238del|SMARCA2_ENST00000382194.1_In_Frame_Del_p.Q238del|SMARCA2_ENST00000491574.1_3'UTR			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													9	34	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21974765	21974784	+	Frame_Shift_Del	DEL	GCCGCGGCCGTGGCCAGCCA	GCCGCGGCCGTGGCCAGCCA	-	rs138677674		TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:21974765_21974784delGCCGCGGCCGTGGCCAGCCA	ENST00000304494.5	-	1	313_332	c.43_62delTGGCTGGCCACGGCCGCGGC	c.(43-63)cfs	p.WLATAAA15fs	CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.WLATAAA15fs|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	15					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.W15*(7)|p.L16fs*9(4)|p.A20P(3)|p.A19_A20insTA(3)|p.A20A(2)|p.A20T(2)|p.T18P(2)|p.A21D(2)|p.L16P(2)|p.L16_A17insAT(1)|p.W15L(1)|p.R22fs*14(1)|p.S12fs*20(1)|p.A20E(1)|p.S7_A19del(1)|p.S12fs*6(1)|p.0(1)|p.A17_T18insTA(1)|p.T18M(1)|p.A20fs*26(1)|p.A20_A21del(1)|p.A17fs*5(1)|p.A20S(1)|p.A17T(1)|p.L16R(1)|p.A20fs*6(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGACCCCGGGCCGCGGCCGTGGCCAGCCAGTCAGCCGAA	0.750		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			16	38	---	---	---	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:43844265delG	ENST00000377564.3	+	10	1992	c.1599delG	c.(1597-1599)gcfs	p.A533fs		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													8	23	---	---	---	---					
PRKACG	5568	broad.mit.edu	37	9	71628412	71628432	+	In_Frame_Del	DEL	CAAGGTCCAAGTGCGGCCCTT	CAAGGTCCAAGTGCGGCCCTT	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr9:71628412_71628432delCAAGGTCCAAGTGCGGCCCTT	ENST00000377276.2	-	1	607_627	c.577_597delAAGGGCCGCACTTGGACCTTG	c.(577-597)del	p.KGRTWTL193del		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	193	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.R195C(1)|p.R195H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GGGTCCCGCACAAGGTCCAAGTGCGGCCCTTCACGCGCTTG	0.620													8	27	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													9	142	---	---	---	---					
THUMPD1	55623	broad.mit.edu	37	16	20752832	20752832	+	Splice_Site	DEL	T	T	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr16:20752832delT	ENST00000381337.2	-	1	574	c.231_splice	c.e1+1	p.K77_splice	THUMPD1_ENST00000431224.2_Splice_Site_p.K163_splice|THUMPD1_ENST00000396083.2_Splice_Site_p.K77_splice	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	77										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						GACCGGTACCTTTTCTGGCCC	0.657													2	4	---	---	---	---					
SMG8	55181	broad.mit.edu	37	17	57290780	57290788	+	In_Frame_Del	DEL	AAAGTAATG	AAAGTAATG	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr17:57290780_57290788delAAAGTAATG	ENST00000543872.2	+	4	2860_2868	c.2596_2604delAAAGTAATG	c.(2596-2604)del	p.KVM869del	CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_In_Frame_Del_p.KVM869del			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	869					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGGGCCTGACAAAGTAATGAAAGTAATGG	0.455													35	107	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34297916	34297930	+	In_Frame_Del	DEL	GGAGAAGGGGGATGG	GGAGAAGGGGGATGG	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chr18:34297916_34297930delGGAGAAGGGGGATGG	ENST00000257209.4	+	16	2252_2266	c.2130_2144delGGAGAAGGGGGATGG	c.(2128-2145)gag>ga	p.EEKGDG710del	FHOD3_ENST00000359247.4_In_Frame_Del_p.EEKGDG693del|FHOD3_ENST00000590592.1_In_Frame_Del_p.EEKGDG885del|FHOD3_ENST00000445677.1_In_Frame_Del_p.EEKGDG672del|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000587493.1_3'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	693					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGATGATGAGGAGAAGGGGGATGGGGAGGCTGGG	0.567													29	45	---	---	---	---					
AR	367	broad.mit.edu	37	X	66766357	66766374	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGC	-			TCGA-HD-8224-01A-11D-2394-08	TCGA-HD-8224-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c97076ec-f214-4e8b-81f7-8450b2a28483	bd989f02-21a5-4a33-a962-b80b1c5f7431	g.chrX:66766357_66766374delGGCGGCGGCGGCGGCGGC	ENST00000374690.3	+	1	1893_1910	c.1369_1386delGGCGGCGGCGGCGGCGGC	c.(1369-1386)del	p.GGGGGG463del	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.GGGGGG463del|AR_ENST00000396044.3_In_Frame_Del_p.GGGGGG463del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	461	Modulating.|Poly-Gly.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	tgggggtggtggcggcggcggcggcggcggcggcggcg	0.739									Androgen Insensitivity Syndrome				3	4	---	---	---	---