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
FAM118B	79607	broad.mit.edu	37	11	126126563	126126563	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:126126563C>G	ENST00000533050.1	+	7	1291	c.798C>G	c.(796-798)gtC>gtG	p.V266V	FAM118B_ENST00000360194.4_Silent_p.V266V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGGAGGCTGTCAAGCATAAAT	0.448000													41	53					0	0	0.098360	0	0
DENND4C	55667	broad.mit.edu	37	9	19346705	19346705	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:19346705G>T	ENST00000307015.9	+	19	3254	c.1502G>T	c.(1501-1503)gGc>gTc	p.G501V	DENND4C_ENST00000380432.2_Missense_Mutation_p.G1028V|DENND4C_ENST00000602925.1_Missense_Mutation_p.G1264V|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1313V|DENND4C_ENST00000540671.1_Missense_Mutation_p.G358V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1028						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGAGTCTGGCATGACTACT	0.398000													4	84					0.000602214	0.000733131	0.014758	1	0
TNXB	7148	broad.mit.edu	37	6	32039776	32039776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:32039776C>T	ENST00000375244.3	-	13	5182	c.4981G>A	c.(4981-4983)Gca>Aca	p.A1661T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1661T			P22105	TENX_HUMAN	tenascin XB	1743	Fibronectin type-III 9.				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						CCCGTCTTTGCCTCCACAGAG	0.592000													10	12					0	0	0.093190	0	0
CSMD3	114788	broad.mit.edu	37	8	113304784	113304784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr8:113304784G>A	ENST00000297405.5	-	55	9014	c.8770C>T	c.(8770-8772)Cct>Tct	p.P2924S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2854S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2755S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2884S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2924	Sushi 19.					integral to membrane|plasma membrane		p.P2924T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTGGAGGATGGCTCCAC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	235					0	0	0.048971	0	0
THBS1	7057	broad.mit.edu	37	15	39883403	39883403	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:39883403A>G	ENST00000260356.5	+	15	2430	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	755					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAACTGTCCATTCCATTACA	0.448000													60	123					0	0	0.048971	0	0
EPS8L1	54869	broad.mit.edu	37	19	55597452	55597452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:55597452G>A	ENST00000201647.6	+	16	1598	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W450*|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W387*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W200*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	514	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCGTAAGTGGTGGAAGGTTC	0.622000													5	85					0	0	0.014758	0	0
OR4C6	219432	broad.mit.edu	37	11	55432839	55432839	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:55432839T>C	ENST00000314259.3	+	1	226	c.197T>C	c.(196-198)cTt>cCt	p.L66P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTCTTGTCCCTTTTGGATGTC	0.448000													3	230					0	0	0.009096	0	0
SPTBN1	0	broad.mit.edu	37	2	54880943	54880943	+	Silent	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:54880943C>G	ENST00000333896.5	+	26	6121	c.5736C>G	c.(5734-5736)ctC>ctG	p.L1912L	SPTBN1_ENST00000356805.4_Silent_p.L1925L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1925	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTCATGCTCTGGATGGAGG	0.577000													14	22					0	0	0.105934	0	0
AMER1	139285	broad.mit.edu	37	X	63411385	63411385	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:63411385G>A	ENST00000330258.3	-	2	2054	c.1782C>T	c.(1780-1782)caC>caT	p.H594H	AMER1_ENST00000374869.3_Silent_p.H594H|AMER1_ENST00000403336.1_Silent_p.H594H	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CCTCCCTGGCGTGGGCCTCCC	0.612000													3	38					0	0	0.004672	0	0
OR2W3	343171	broad.mit.edu	37	1	248059264	248059264	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:248059264A>G	ENST00000537741.1	+	3	633	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	OR2W3_ENST00000360358.3_Missense_Mutation_p.I126V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGTGTGGCTATCTGCAAGCC	0.607000													20	61					0	0	0.055883	0	0
RGAG1	57529	broad.mit.edu	37	X	109694416	109694416	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:109694416T>C	ENST00000465301.2	+	3	817	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S191P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	191										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGGCAATGTCCACACCATT	0.483000													67	48					0	0	0.048971	0	0
CLVS2	134829	broad.mit.edu	37	6	123332253	123332253	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:123332253A>G	ENST00000275162.4	+	3	1848	c.513A>G	c.(511-513)caA>caG	p.Q171Q	CLVS2_ENST00000368438.1_Silent_p.Q25Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Q171H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTCAAGCAAGCCTCTAAAC	0.413000													4	86					0	0	0.009096	0	0
PRDM9	56979	broad.mit.edu	37	5	23526956	23526956	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:23526956C>T	ENST00000296682.3	+	11	1941	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607000										HNSCC(3;0.000094)			34	62					0	0	0.048971	0	0
NEB	4703	broad.mit.edu	37	2	152474871	152474871	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:152474871C>T	ENST00000397345.3	-	74	11196	c.10994G>A	c.(10993-10995)cGt>cAt	p.R3665H	NEB_ENST00000603639.1_Missense_Mutation_p.R3665H|NEB_ENST00000409198.1_Missense_Mutation_p.R3422H|NEB_ENST00000427231.2_Missense_Mutation_p.R3665H|NEB_ENST00000604864.1_Missense_Mutation_p.R3665H|NEB_ENST00000172853.10_Missense_Mutation_p.R3422H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3665					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTTTCTGGACGCTGACGGTA	0.443000													54	210					0	0	0.048971	0	0
PDZD2	23037	broad.mit.edu	37	5	32089685	32089685	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:32089685G>A	ENST00000438447.1	+	20	6519	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2044D			O15018	PDZD2_HUMAN	PDZ domain containing 2	2044					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTAGGAACGGCATGTCCGTG	0.642000													4	149					0	0	0.009096	0	0
KRT6C	286887	broad.mit.edu	37	12	52865067	52865067	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:52865067A>G	ENST00000252250.6	-	5	973	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	309	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGGGTCTGCATCTGGGACAG	0.507000													45	85					0	0	0.048971	0	0
UBR3	130507	broad.mit.edu	37	2	170917865	170917865	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:170917865A>G	ENST00000272793.5	+	35	4981	c.4931A>G	c.(4930-4932)aAa>aGa	p.K1644R	UBR3_ENST00000392631.1_Missense_Mutation_p.K465R|UBR3_ENST00000418381.1_Missense_Mutation_p.K1644R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1644					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCCATGGAAAAATGCTTACAG	0.363000													109	176					0	0	0.048971	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		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	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		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)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								31	68					0	0	0.050027	0	0
TROAP	10024	broad.mit.edu	37	12	49717665	49717665	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:49717665C>A	ENST00000551245.1	+	3	293	c.182C>A	c.(181-183)cCc>cAc	p.P61H	TROAP_ENST00000550709.1_Missense_Mutation_p.P61H|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000548311.1_Missense_Mutation_p.P61H|TROAP_ENST00000380327.5_Missense_Mutation_p.P61H|TROAP_ENST00000257909.3_Missense_Mutation_p.P61H|RP11-161H23.9_ENST00000553259.1_RNA			Q12815	TROAP_HUMAN	trophinin associated protein	61					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATTCAACGCCCCCTCGTTGAT	0.562000													4	167					0.00909568	0.0108374	0.009096	1	0
KRT77	374454	broad.mit.edu	37	12	53088518	53088518	+	Silent	SNP	G	G	A	rs75198741		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:53088518G>A	ENST00000341809.3	-	5	1000	c.972C>T	c.(970-972)gaC>gaT	p.D324D	RP11-641A6.3_ENST00000547533.1_RNA|KRT77_ENST00000537195.1_Silent_p.D91D	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	324	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACGGTTATTGTCCATGGACA	0.572000													4	116					0	0	0.009096	0	0
DCLK3	85443	broad.mit.edu	37	3	36779426	36779426	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:36779426G>T	ENST00000416516.2	-	2	1215	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	242						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCTTCTTGGCCTTGGCTGC	0.562000													6	139					2.7689e-08	3.44574e-08	0.029380	1	0
PRDM10	56980	broad.mit.edu	37	11	129784709	129784709	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:129784709G>A	ENST00000358825.5	-	18	2974	c.2743C>T	c.(2743-2745)Cga>Tga	p.R915*	PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R825*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R885*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R829*|PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R829*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.R911*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGGCGTTCGGTAGTCTGTC	0.552000													11	325					0	0	0.080935	0	0
ABCB4	5244	broad.mit.edu	37	7	87046828	87046828	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:87046828T>C	ENST00000265723.4	-	21	2593	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ABCB4_ENST00000359206.3_Missense_Mutation_p.T828A|ABCB4_ENST00000545634.1_Missense_Mutation_p.T828A|ABCB4_ENST00000453593.1_Missense_Mutation_p.T828A|ABCB4_ENST00000358400.3_Missense_Mutation_p.T828A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	828	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGGTTCCTGTGGCCTGGGAG	0.428000													18	43					0	0	0.049695	0	0
TRUB2	26995	broad.mit.edu	37	9	131084636	131084636	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:131084636G>C	ENST00000372890.4	-	1	385	c.52C>G	c.(52-54)Ccc>Gcc	p.P18A	TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	18					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCCCGGGGGCTTATAGACC	0.592000													3	120					0	0	0.004672	0	0
PYROXD1	79912	broad.mit.edu	37	12	21593340	21593340	+	Silent	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:21593340A>G	ENST00000240651.9	+	2	177	c.123A>G	c.(121-123)gtA>gtG	p.V41V	PYROXD1_ENST00000538582.1_5'UTR|PYROXD1_ENST00000545178.1_Silent_p.V41V	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	41							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTCTCTTGGTAACAGCTTCTC	0.289000													9	140					0	0	0.069234	0	0
OR8B4	283162	broad.mit.edu	37	11	124293908	124293908	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:124293908G>A	ENST00000356130.3	-	1	881	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTAGATCGAAGGGTTAAG	0.443000													32	52					0	0	0.050027	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277114	160277114	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:160277114G>A	ENST00000264431.4	+	23	4697	c.4278G>A	c.(4276-4278)ccG>ccA	p.P1426P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1426					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGAAACCGCCGGACTACAACG	0.612000													10	19					0	0	0.069234	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805131	44805131	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:44805131C>A	ENST00000309315.4	+	16	2318	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P674H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P732H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P700H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P706H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	732	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTTTGCCCCCCTGCAGCCC	0.687000													28	11					6.38683e-12	8.12869e-12	0.037714	1	0
BCL6	604	broad.mit.edu	37	3	187449545	187449545	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:187449545A>G	ENST00000406870.2	-	4	701	c.335T>C	c.(334-336)cTg>cCg	p.L112P	BCL6_ENST00000450123.2_Missense_Mutation_p.L112P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.L112P|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	112					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCCATCTGCAGGTACATAGC	0.537000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								20	51					0	0	0.062417	0	0
IGSF6	10261	broad.mit.edu	37	16	21658638	21658638	+	Missense_Mutation	SNP	G	G	T	rs1454374	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:21658638G>T	ENST00000268389.4	-	2	304	c.243C>A	c.(241-243)gaC>gaA	p.D81E	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	81	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTGCACCCGTCCAAGCACA	0.512000													53	68					1.86277e-20	2.42593e-20	0.048971	1	0
URI1	8725	broad.mit.edu	37	19	30503230	30503230	+	Missense_Mutation	SNP	G	G	A	rs140683632		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:30503230G>A	ENST00000392271.1	+	10	1514	c.989G>A	c.(988-990)cGc>cAc	p.R330H	URI1_ENST00000542441.2_Missense_Mutation_p.R406H|URI1_ENST00000312051.6_Missense_Mutation_p.R366H|URI1_ENST00000360605.4_Missense_Mutation_p.R388H	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	406					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										TATGTCCCTCGCAAATCCATC	0.408000													51	167					0	0	0.048971	0	0
OCA2	4948	broad.mit.edu	37	15	28235791	28235791	+	Silent	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:28235791G>A	ENST00000354638.3	-	10	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	OCA2_ENST00000382996.2_Silent_p.I349I|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	349					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCTGTGCACGATCTGGAAAG	0.547000									Oculocutaneous Albinism				5	167					0	0	0.014758	0	0
DNAJC14	85406	broad.mit.edu	37	12	56217271	56217271	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:56217271G>A	ENST00000357606.3	-	4	1718	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	DNAJC14_ENST00000317287.5_Missense_Mutation_p.H477Y|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H477Y|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S106L			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	477	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCCGGGGATGATGATTTTTG	0.443000													3	80					0	0	0.009096	0	0
GDAP2	54834	broad.mit.edu	37	1	118441728	118441728	+	Silent	SNP	C	C	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:118441728C>A	ENST00000369443.4	-	7	996	c.747G>T	c.(745-747)gtG>gtT	p.V249V	GDAP2_ENST00000464026.1_5'UTR|GDAP2_ENST00000369442.3_Silent_p.V249V	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	249										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTCAGGTACCACAGGCTCCC	0.438000													61	128					5.39075e-54	7.18766e-54	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577000		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)			40	15					0	0	0.042209	0	0
WDFY3	23001	broad.mit.edu	37	4	85600267	85600267	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:85600267C>T	ENST00000322366.6	-	64	10308	c.9901G>A	c.(9901-9903)Gca>Aca	p.A3301T	WDFY3_ENST00000295888.4_Missense_Mutation_p.A3318T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3318						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGGCTGTTGCGCGGCAGGAG	0.582000													26	35					0	0	0.091800	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30092391	30092391	+	Silent	SNP	C	C	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:30092391C>T	ENST00000449726.1	+	7	1055	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHA8_ENST00000258679.7_Silent_p.I235I|PLEKHA8_ENST00000396259.1_Silent_p.I235I|PLEKHA8_ENST00000396257.2_Silent_p.I235I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	235					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGAAATCCTAATGAAAA	0.308000													21	106					0	0	0.055883	0	0
CELF2	10659	broad.mit.edu	37	10	11363181	11363181	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr10:11363181C>G	ENST00000379261.4	+	11	1179	c.1087C>G	c.(1087-1089)Ctg>Gtg	p.L363V	CELF2_ENST00000399850.3_Missense_Mutation_p.L345V|CELF2_ENST00000354440.2_Missense_Mutation_p.L345V|CELF2_ENST00000427450.1_Missense_Mutation_p.L345V|CELF2_ENST00000450189.1_Missense_Mutation_p.L376V|CELF2_ENST00000354897.3_Missense_Mutation_p.L357V|CELF2_ENST00000416382.2_Missense_Mutation_p.L363V|CELF2_ENST00000417956.2_Missense_Mutation_p.L343V|CELF2_ENST00000542579.1_Missense_Mutation_p.L376V|CELF2_ENST00000315874.3_Missense_Mutation_p.L345V|CELF2_ENST00000537122.1_Missense_Mutation_p.L258V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGGCGGCTCTGAATGGAGG	0.502000													4	132					0	0	0.009096	0	0
CCDC82	79780	broad.mit.edu	37	11	96092275	96092275	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:96092275A>T	ENST00000278520.5	-	8	1876	c.1448T>A	c.(1447-1449)tTc>tAc	p.F483Y	CCDC82_ENST00000423339.2_Missense_Mutation_p.F483Y|CCDC82_ENST00000542662.1_Missense_Mutation_p.F483Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	483							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTATAGTTTGAATTTAAAATG	0.343000													31	81					0	0	0.045705	0	0
OR51F2	119694	broad.mit.edu	37	11	4843405	4843405	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:4843405A>G	ENST00000322110.5	+	1	855	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCATCTTCTACCT	0.478000													27	49					0	0	0.091800	0	0
SMARCA4	6597	broad.mit.edu	37	19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:11132435A>G	ENST00000358026.2	+	19	2935	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622000			"""F, N, Mis"""		NSCLC								10	21					0	0	0.080935	0	0
AC108488.3	0	broad.mit.edu	37	2	3608120	3608120	+	RNA	DEL	T	T	-	rs70938948		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:3608120delT	ENST00000438436.1	+	0	789				AC108488.3_ENST00000426725.1_RNA	NR_038429.1																						ccttccttccttccttccttc	0.413													2	4	---	---	---	---					
CTC-535M15.2	0	broad.mit.edu	37	5	165019311	165019314	+	RNA	DEL	GAAG	GAAG	-	rs112356683		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:165019311_165019314delGAAG	ENST00000522189.1	+	0	21																											aggaaggaaagaaggaaggaagga	0.319													4	3	---	---	---	---					
SLTM	79811	broad.mit.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gfs	p.E665fs	SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475													8	236	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													4	4	---	---	---	---					
CCDC64B	146439	broad.mit.edu	37	16	3078744	3078744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:3078744delC	ENST00000573514.1	-	6	2764	c.574delG	c.(574-576)ccfs	p.A192fs	CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.A399fs|CCDC64B_ENST00000572449.1_Frame_Shift_Del_p.A399fs			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	399										breast(1)|endometrium(2)|large_intestine(1)	4						CTGTGCAGGGCCTCCCCAGGG	0.667													2	4	---	---	---	---					
TK2	7084	broad.mit.edu	37	16	66551051	66551053	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:66551051_66551053delCTT	ENST00000299697.7	-	8	954_956	c.730_732delAAG	c.(730-732)del	p.K244del	RP11-403P17.5_ENST00000561728.1_In_Frame_Del_p.EG18del|TK2_ENST00000563369.2_In_Frame_Del_p.K105del|TK2_ENST00000451102.2_In_Frame_Del_p.K202del|TK2_ENST00000417693.3_In_Frame_Del_p.K184del|TK2_ENST00000545043.2_In_Frame_Del_p.K177del|TK2_ENST00000527800.1_In_Frame_Del_p.K105del|TK2_ENST00000527284.1_In_Frame_Del_p.K171del|TK2_ENST00000525974.1_In_Frame_Del_p.K105del|TK2_ENST00000564917.1_In_Frame_Del_p.K202del|TK2_ENST00000544898.1_In_Frame_Del_p.K153del	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	202					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGAATGACCTTCTCCTCTTCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	10	485	---	---	---	---					
KRT20	54474	broad.mit.edu	37	17	39034595	39034596	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:39034595_39034596delAG	ENST00000167588.3	-	6	981_982	c.940_941delCT	c.(940-942)afs	p.L314fs		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	314	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTCTCCTCTAGAGTGTGCTCC	0.460													30	86	---	---	---	---					
CD177	57126	broad.mit.edu	37	19	43865786	43865786	+	RNA	DEL	G	G	-			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:43865786delG	ENST00000378009.4	+	0	1242				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ctggactcctgggtctgaggg	0.662													2	4	---	---	---	---