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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr15:102515335C>G	uc002cdi.3	+	8	1979	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000														47			6		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106532400	106532400	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr12:106532400T>C	uc001tlj.1	-	0	1412	c.32A>G	c.(31-33)gAc>gGc	p.D11G		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	11							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCGGGGCGGTCCCCCGCCAC	0.771000														9			4		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974297	44974297	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr14:44974297C>A	uc001wvn.3	-	0	2203	c.1894G>T	c.(1894-1896)Gct>Tct	p.A632S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	632	Ala-rich.					cilium		p.A632S(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.637000														84			6		0.00116845	0.00116845	1	1	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	T	T			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr18:15323276A>T	uc002ktd.1	-	2		c.183T>A								Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA.																		ATCAACTGCAATTGCATTTGC	0.308000														19			5		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40675	40675	+	Silent	SNP	G	A	A			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chrGL000218.1:40675G>A	uc011mfn.2	-	2	344	c.255C>T	c.(253-255)gaC>gaT	p.D85D	LOC100233156_uc003jah.2_Silent_p.D85D					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGTGCCGCACGTCCTCCAGTT	0.662000														32			6		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40673	40673	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chrGL000218.1:40673A>G	uc011mfn.2	-	2	346	c.257T>C	c.(256-258)gTg>gCg	p.V86A	LOC100233156_uc003jah.2_Missense_Mutation_p.V86A					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		CTTGTGCCGCACGTCCTCCAG	0.667000														28			10		0	0	1	0	0
DGCR14	8220	broad.mit.edu	37	22	19132062	19132062	+	Missense_Mutation	SNP	G	A	A	rs113904207	byFrequency	TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr22:19132062G>A	uc002zou.3	-	0	129	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	31			A -> V.		nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CTTGCTCGTCGCAGCCCCAGC	0.677000														51			6		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	AGCT	AGCT	rs141324796	by1000genomes	TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718													---	18	---	---	8	---					
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	-	-	rs143222885	by1000genomes	TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr1:152082957_152082959delCTC	uc009wne.1	-	2	3006_3008	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del	TCHH_uc001ezp.2_In_Frame_Del_p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	912	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586													---	544	---	---	7	---					
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr1:183515266_183515267insA	uc001gqg.3	+	16	2786_2787	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_uc010pob.2_Frame_Shift_Ins_p.E829fs|SMG7_uc021pga.1_Frame_Shift_Ins_p.E758fs|SMG7_uc001gqf.3_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.3_Frame_Shift_Ins_p.E800fs|SMG7_uc010poc.2_Frame_Shift_Ins_p.E804fs	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	846					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.450													---	139	---	---	7	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													---	208	---	---	7	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	T	T	rs17875385		TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr6:29694802_29694803insT	uc003nno.4	+	6	1303_1304	c.1179_1180insT	c.(1177-1182)ttgtttfs	p.L393fs	HLA-F_uc011dlx.1_Intron|HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													---	481	---	---	12	---					
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	Splice_Site	DEL	A	-	-	rs112122477		TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr7:149515189delA	uc010lpk.3	+	80	11568	c.11568_splice	c.e80+2	p.E3856_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3859	TSP type-1 16.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													---	15	---	---	16	---					
INA	9118	broad.mit.edu	37	10	105048271	105048273	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr10:105048271_105048273delGAG	uc001kws.3	+	2	1394_1396	c.1345_1347delGAG	c.(1345-1347)gagdel	p.E454del		NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	454	Poly-Glu.|Tail.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton	p.E449_E450delEE(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACTTAAGAAAGAGGAGGAGGAGG	0.458													---	203	---	---	10	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573310	+	RNA	INS	-	CCC	CCC	rs66804813		TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr12:9573309_9573310insCCC	uc021qut.1	-	10		c.2088_2089insGGG			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGAG	0.579													---	39	---	---	16	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr12:122812690_122812691insT	uc001ucg.2	-	16	3207_3208	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													---	399	---	---	7	---					
THSD1P1	374500	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr13:52796688delC	uc001vgn.3	-	6		c.629delG			THSD1P1_uc001vgm.1_Intron					Homo sapiens mRNA; cDNA DKFZp434F1622 (from clone DKFZp434F1622).																		cgctattgctccccacccatc	0.537													---	50	---	---	7	---					
NFAT5	10725	broad.mit.edu	37	16	69726420	69726422	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr16:69726420_69726422delCAG	uc002exm.2	+	11	2974_2976	c.2638_2640delCAG	c.(2638-2640)cagdel	p.Q888del	NFAT5_uc002exj.2_In_Frame_Del_p.Q812del|NFAT5_uc002exk.2_In_Frame_Del_p.Q812del|NFAT5_uc002exl.2_In_Frame_Del_p.Q906del|NFAT5_uc002exn.2_In_Frame_Del_p.Q905del|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_In_Frame_Del_p.Q812del	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	888	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q804Q(1)|p.Q898Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTAATcaacagcagcagcagc	0.473													---	120	---	---	8	---					
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	-	-	rs4788682	by1000genomes	TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr16:72991713_72991715delCCA	uc002fck.3	-	1	3003_3005	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(2)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635													---	246	---	---	8	---					
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr16:89951019_89951020insA	uc002fpb.2	+	2	466_467	c.384_385insA	c.(382-387)aagaaafs	p.K128fs	TCF25_uc002fpc.2_5'UTR	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	128					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446													---	57	---	---	7	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	202	---	---	10	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	-	-	rs72445954		TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	5	---	---	8	---					
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-8638-01A-11D-2396-08	TCGA-HZ-8638-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08f8e370-782c-48de-989b-b861fafa9155	380736fb-bc7c-4d24-b8d8-66441c315ed4	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													---	209	---	---	8	---					
