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
NOTCH1	4851	broad.mit.edu	37	9	139413085	139413085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:139413085G>A	ENST00000277541.6	-	6	1132	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	353	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R353C(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGGCCACACGGTCATGGCAG	0.652000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			3	16					0	0	0.004672	0	0
CAMK1D	57118	broad.mit.edu	37	10	12867572	12867572	+	Splice_Site	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:12867572C>G	ENST00000378847.3	+	10	1259	c.921_splice	c.e10-1	p.Q308_splice	CAMK1D_ENST00000378845.1_Splice_Site_p.Q308_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	308	Autoinhibitory domain (By similarity).|Calmodulin-binding (By similarity).					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GAAATTTCAGCAAGCATTTAA	0.413000													5	80					0	0	0.021553	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723793	140723793	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:140723793C>T	ENST00000253812.6	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.R65C(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.617000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	136					0	0	0.020292	0	0
C3orf38	285237	broad.mit.edu	37	3	88199220	88199220	+	Silent	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:88199220C>G	ENST00000318887.3	+	1	328	c.18C>G	c.(16-18)ctC>ctG	p.L6L	C3orf38_ENST00000486971.1_Silent_p.L6L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	6					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGTCGGGACTCAGCTTTTCAG	0.617000													3	24					0	0	0.004672	0	0
CCR1	1230	broad.mit.edu	37	3	46244880	46244880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr3:46244880G>A	ENST00000296140.3	-	2	1050	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	309					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTACTTCCGGAACCTCTCA	0.587000													3	25					0	0	0.004672	0	0
C11orf53	341032	broad.mit.edu	37	11	111154935	111154935	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:111154935G>A	ENST00000280325.4	+	3	289	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	48										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		TGAGTCCTCCGCAGGGCAGAG	0.582000													7	178					0	0	0.038147	0	0
LAMB3	3914	broad.mit.edu	37	1	209803116	209803116	+	Silent	SNP	C	C	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:209803116C>A	ENST00000391911.1	-	9	1487	c.1098G>T	c.(1096-1098)cgG>cgT	p.R366R	LAMB3_ENST00000356082.4_Silent_p.R366R|LAMB3_ENST00000367030.3_Silent_p.R366R	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	366	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTCCCGGGCGCCGGTTCCGGA	0.582000													4	53					0.00909568	0.0106775	0.009096	1	0
PPP1R26	9858	broad.mit.edu	37	9	138379027	138379027	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:138379027C>T	ENST00000356818.2	+	4	3220	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R891C|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R891C|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R891C	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	891						nucleolus	protein binding										CGTGTGCACACGCAGCCAGAG	0.697000													15	57					0	0	0.020292	0	0
TRPM6	140803	broad.mit.edu	37	9	77354692	77354692	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:77354692G>A	ENST00000451710.3	-	33	5683	c.5446C>T	c.(5446-5448)Cgg>Tgg	p.R1816W	TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1812	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGCCATGTCCGCACAACCTCA	0.488000													5	183					0	0	0.014758	0	0
CFHR2	3080	broad.mit.edu	37	1	196918742	196918742	+	Silent	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:196918742C>T	ENST00000367415.4	+	2	330	c.216C>T	c.(214-216)tgC>tgT	p.C72C	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Silent_p.C72C	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	72	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GCATAACGTGCGCAGAAGAAG	0.408000													4	40					0	0	0.014758	0	0
CRYGA	1418	broad.mit.edu	37	2	209025578	209025578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:209025578C>T	ENST00000304502.4	-	3	494	c.475G>A	c.(475-477)Ggt>Agt	p.G159S		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCATCTGCACCCCCCCAGTCG	0.537000													3	87					0	0	0.004672	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													6	80					0	0	0.021553	0	0
MAP1B	4131	broad.mit.edu	37	5	71492944	71492944	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:71492944G>A	ENST00000296755.7	+	5	4060	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1254						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGCCCATCGAAGAGCCCGT	0.493000													5	44					0	0	0.029380	0	0
C2orf16	84226	broad.mit.edu	37	2	27804893	27804893	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:27804893G>A	ENST00000408964.2	+	1	5505	c.5454G>A	c.(5452-5454)ttG>ttA	p.L1818L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1818	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAGTCTCTTGGAGAGGAGCC	0.537000													6	104					0	0	0.021553	0	0
PATL1	219988	broad.mit.edu	37	11	59420024	59420024	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr11:59420024C>T	ENST00000300146.9	-	11	1423	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	447	Region H.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGTATTTCTTCAGCAGCTGAC	0.458000													4	62					0	0	0.021553	0	0
FRMPD3	84443	broad.mit.edu	37	X	106819559	106819559	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chrX:106819559G>A	ENST00000276185.4	+	14	1410	c.1410G>A	c.(1408-1410)ttG>ttA	p.L470L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	470	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGGTGCTGTTGATGGAGTGGC	0.552000													8	84					0	0	0.047766	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38483195	38483195	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:38483195T>C	ENST00000381669.3	-	11	1339	c.1195A>G	c.(1195-1197)Atg>Gtg	p.M399V		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	399					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					atggaggtcatgggggtcacg	0.642000													18	11					0	0	0.038395	0	0
ESR2	2100	broad.mit.edu	37	14	64746775	64746775	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr14:64746775G>A	ENST00000557772.1	-	2	458	c.459C>T	c.(457-459)agC>agT	p.S153S	ESR2_ENST00000555278.1_Silent_p.S153S|ESR2_ENST00000554572.1_Silent_p.S153S|ESR2_ENST00000553796.1_Silent_p.S153S|ESR2_ENST00000542956.1_Silent_p.S153S|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000267525.6_Silent_p.S153S|ESR2_ENST00000341099.4_Silent_p.S153S|ESR2_ENST00000358599.5_Silent_p.S153S|ESR2_ENST00000357782.2_Silent_p.S153S|ESR2_ENST00000353772.3_Silent_p.S153S	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	153					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATGCGTAATCGCTGCAGACAG	0.473000													12	207					0	0	0.105934	0	0
FLG	2312	broad.mit.edu	37	1	152286334	152286334	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:152286334C>T	ENST00000368799.1	-	3	1063	c.1028G>A	c.(1027-1029)aGa>aAa	p.R343K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	343	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGGCTCTGTCTTCATC	0.562000									Ichthyosis				10	238					0	0	0.069234	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39387498	39387498	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:39387498G>A	ENST00000402182.3	+	6	940	c.885G>A	c.(883-885)gcG>gcA	p.A295A	APOBEC3B_ENST00000333467.3_Silent_p.A295A|APOBEC3B_ENST00000407298.3_Silent_p.A270A			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	295					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AAGTGCGTGCGTTCCTTCAGG	0.577000													5	105					0	0	0.021553	0	0
CPA6	57094	broad.mit.edu	37	8	68423859	68423859	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr8:68423859C>G	ENST00000297770.4	-	4	564	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	CPA6_ENST00000297769.4_5'UTR|CPA6_ENST00000518549.1_Missense_Mutation_p.E117Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	117					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTTCCCTTCTCCAGTGTTTTC	0.388000													6	198					0	0	0.047766	0	0
NOVA2	4858	broad.mit.edu	37	19	46444042	46444042	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr19:46444042G>A	ENST00000263257.5	-	4	752	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	186	KH 2.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GCACCTGCTCGGGCTCGCCGC	0.632000													3	34					0	0	0.004672	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056008	102056008	+	Silent	SNP	G	G	C			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:102056008G>C	ENST00000318222.3	-	7	1609	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	PKD2L1_ENST00000338519.3_Silent_p.L334L|PKD2L1_ENST00000353274.3_Silent_p.L409L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	409					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GATTCACCTCGAGGGTTCGGA	0.542000													3	28					0	0	0.004672	0	0
TRIM8	81603	broad.mit.edu	37	10	104415877	104415877	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104415877G>A	ENST00000302424.6	+	4	1037	c.915G>A	c.(913-915)gtG>gtA	p.V305V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	305						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCAAGTCTGTGAAAATCCTGA	0.637000													5	209					0	0	0.021553	0	0
FAM189A2	9413	broad.mit.edu	37	9	71992331	71992331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr9:71992331G>A	ENST00000257515.8	+	5	718	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Missense_Mutation_p.V100I	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	100						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GACCACCACCGTCTGCTTGGT	0.532000													7	55					0	0	0.069234	0	0
RGPD4	285190	broad.mit.edu	37	2	108488636	108488636	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:108488636A>T	ENST00000408999.3	+	20	4253	c.4176A>T	c.(4174-4176)caA>caT	p.Q1392H	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1392H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1392	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAATAAGCAAGTTCGTATAG	0.363000													6	246					0	0	0.021553	0	0
SLC2A11	66035	broad.mit.edu	37	22	24204324	24204324	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:24204324G>A	ENST00000345044.6	+	2	323	c.55G>A	c.(55-57)Gct>Act	p.A19T	SLC2A11_ENST00000398356.2_Missense_Mutation_p.A26T|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000403208.3_Missense_Mutation_p.A19T|SLC2A11_ENST00000316185.8_Missense_Mutation_p.A22T|SLC2A11_ENST00000405847.1_Missense_Mutation_p.A19T			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	19						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GACCATCTGCGCTGCCGGCAT	0.557000													4	156					0	0	0.014758	0	0
ASF1A	25842	broad.mit.edu	37	6	119226832	119226832	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr6:119226832C>G	ENST00000229595.5	+	3	435	c.241C>G	c.(241-243)Cca>Gca	p.P81A	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	81	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TGCACCTAATCCAGGACTCAT	0.393000													3	116					0	0	0.004672	0	0
CELSR2	1952	broad.mit.edu	37	1	109794178	109794178	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:109794178G>A	ENST00000271332.3	+	1	1538	c.1477G>A	c.(1477-1479)Gta>Ata	p.V493I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	493	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTGGTGACAGTACAGGTCCT	0.567000													4	183					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82581315	82581315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:82581315C>G	ENST00000423517.2	-	5	9291	c.8954G>C	c.(8953-8955)aGa>aCa	p.R2985T	PCLO_ENST00000333891.8_Missense_Mutation_p.R2985T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2916					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCAATCCCTCTATAACCATA	0.423000													7	173					0	0	0.038147	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490605	141490605	+	Silent	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr7:141490605C>T	ENST00000247883.4	+	1	589	c.444C>T	c.(442-444)ttC>ttT	p.F148F		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	148					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GCTTAACATTCTATCATCCTC	0.433000													4	24					0	0	0.009096	0	0
SUFU	51684	broad.mit.edu	37	10	104359280	104359280	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr10:104359280G>A	ENST00000369902.3	+	8	1167	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.G334D|SUFU_ENST00000369899.2_Missense_Mutation_p.G334D	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	334					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CGGCAGAATGGCCTCGCCCAC	0.582000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				6	51					0	0	0.021553	0	0
AFF4	27125	broad.mit.edu	37	5	132232314	132232314	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr5:132232314C>T	ENST00000265343.5	-	11	2387	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	AFF4_ENST00000378595.3_Missense_Mutation_p.E670K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	670					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	p.E670K(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTGCTCTCGGGGTACTTA	0.443000													4	55					0	0	0.009096	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044193	90044193	+	RNA	SNP	G	G	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:90044193G>T	ENST00000462693.1	+	0	144																											TTGGACAGCCGGCCTCCATCT	0.527000													7	105					0.0293803	0.0337561	0.029380	1	0
ENTHD1	150350	broad.mit.edu	37	22	40283601	40283601	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:40283601G>C	ENST00000325157.6	-	2	402	c.152C>G	c.(151-153)tCa>tGa	p.S51*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	51	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CATAATCTCTGAGAGAGAAAT	0.418000													3	126					0	0	0.009096	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													3	45					0	0	0.009096	0	0
GALNT1	2589	broad.mit.edu	37	18	33283589	33283589	+	Silent	SNP	C	C	G			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr18:33283589C>G	ENST00000269195.5	+	10	1618	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	GALNT1_ENST00000537549.1_Silent_p.L445L	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	505	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GCAACCAACTCTGGGAGTATG	0.373000													4	50					0	0	0.009096	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046267	24046267	+	Silent	SNP	G	G	A			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:24046267G>A	ENST00000238789.5	-	16	2335	c.1992C>T	c.(1990-1992)tcC>tcT	p.S664S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	664							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACGTTGGGAAGCAGGCA	0.453000													3	28					0	0	0.009096	0	0
BARHL2	343472	broad.mit.edu	37	1	91182382	91182384	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr1:91182382_91182384delGGC	ENST00000370445.4	-	1	410_412	c.369_371delGCC	c.(367-372)ccc>cc	p.PP123del		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	123	Gln/Pro-rich.					nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTGCTGGGGGggcggcggcggcg	0.685													2	4	---	---	---	---					
CGREF1	10669	broad.mit.edu	37	2	27324372	27324422	+	In_Frame_Del	DEL	CAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT	CAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT	-	rs11889832	byFrequency	TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr2:27324372_27324422delCAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCT	ENST00000402394.1	-	6	945_995	c.677_727delAGGGCCAGGCAGAGGCTAAAGGAGATGCCCCTGGGCCCAGAGGGGAAGCTG	c.(676-729)ggg>g	p.EGQAEAKGDAPGPRGEAG226del	CGREF1_ENST00000260595.5_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del|CGREF1_ENST00000404694.3_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG348del|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000405600.1_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del|CGREF1_ENST00000312734.4_In_Frame_Del_p.EGQAEAKGDAPGPRGEAG226del	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	226					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	p.E226G(1)		kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTGGCCCCCAGCTTCCCCTCTGGGCCCAGGGGCATCTCCTTTAGCCTCTGCCTGGCCCTCAGCTTCCCC	0.681													10	270	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)gafs	p.G279fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	279					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592													7	62	---	---	---	---					
TUBB8P7	197331	broad.mit.edu	37	16	90160897	90160898	+	RNA	INS	-	-	GCG			TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr16:90160897_90160898insGCG	ENST00000564451.1	+	0	848_849				TUBB8P7_ENST00000567960.1_RNA																							CTCCTGGGAACGCGGCCCTCCC	0.728													7	21	---	---	---	---					
BAIAP2L2	80115	broad.mit.edu	37	22	38483189	38483190	+	In_Frame_Ins	INS	-	-	GGTCATGGG	rs71803583		TCGA-CV-5971-01A-11D-1683-08	TCGA-CV-5971-11A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881a530b-fdd2-4674-b95d-fded0dfce4ff	cd1d0b67-31b2-49c8-abcc-bb2aebb05646	g.chr22:38483189_38483190insGGTCATGGG	ENST00000381669.3	-	11	1344_1345	c.1200_1201insCCCATGACC	c.(1198-1203)acccat>acCCCATGACCccat	p.400_401TH>TP*PH		NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	400					filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					gaggtcatggaggtcatggggg	0.658													15	17	---	---	---	---					
