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
CD6	923	broad.mit.edu	37	11	60777117	60777117	+	Silent	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:60777117C>T	uc001nqq.3	+	4	1080	c.855C>T	c.(853-855)gtC>gtT	p.V285V	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Silent_p.V285V|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.V285V|CD6_uc001nqt.3_Silent_p.V285V	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	285	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TCCGAGGGGTCTGGAACACAG	0.652000													8	71					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122619684	122619684	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:122619684A>G	uc021pzt.1	+	3	662	c.416A>G	c.(415-417)aAt>aGt	p.N139S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	139						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CACCCGCCAAATTACATTGTG	0.428000													4	85					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383724	78383724	+	Splice_Site	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:78383724G>A	uc001dic.4	+	4	595	c.298_splice	c.e4+1	p.G100_splice	NEXN_uc001dia.3_Splice_Site_p.G100_splice|NEXN_uc009wcb.1_Splice_Site_p.G36_splice|NEXN_uc001dib.4_Splice_Site_p.G36_splice|NEXN_uc001did.1_Splice_Site_p.G24_splice|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	100	Glu-rich.			YVPKLTGT -> NLPFTVP (in Ref. 3; AAD29607).	regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAACAGGTAAGAAGCTT	0.284000													3	64					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676658	65676658	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr15:65676658G>A	uc002aou.1	-	19	3652	c.3442C>T	c.(3442-3444)Ctc>Ttc	p.L1148F	IGDCC4_uc002aot.1_Missense_Mutation_p.L736F	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1148						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGATGGAGGTCAGGGTTC	0.607000													3	69					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr8:10390524C>T	uc003wta.3	+	3	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	236	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483000													3	76					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966764	58966764	+	Silent	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr19:58966764G>C	uc002qsv.1	+	3	560	c.453G>C	c.(451-453)tcG>tcC	p.S151S	ZNF324B_uc002qsu.1_Silent_p.S141S|ZNF324B_uc010euq.1_Silent_p.S151S	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGCTAGGCTCGCGCAGTGACC	0.632000													40	65					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63668346	63668346	+	Missense_Mutation	SNP	G	G	A	rs146234903		TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr11:63668346G>A	uc001nxw.3	+	9	1562	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	MARK2_uc001nxv.4_Missense_Mutation_p.R328Q|MARK2_uc001nxx.3_Missense_Mutation_p.R328Q|MARK2_uc001nxy.3_Missense_Mutation_p.R328Q|MARK2_uc001nxz.4_Missense_Mutation_p.R295Q|MARK2_uc009yoy.3_Missense_Mutation_p.R295Q	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	328	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GACCCCCGGCGGACAGGTGAG	0.547000													4	188					0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461481	461481	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr16:461481C>T	uc002chb.3	+	7	888	c.782C>T	c.(781-783)aCg>aTg	p.T261M	DECR2_uc002chc.3_Missense_Mutation_p.T177M|DECR2_uc002chd.3_Missense_Mutation_p.T177M|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	261						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				TCCTACGTGACGGGGGCCGTG	0.632000													24	62					0	0	1	0	0
HPCAL1	3241	broad.mit.edu	37	2	10560174	10560174	+	Silent	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr2:10560174G>A	uc002raj.3	+	2	665	c.291G>A	c.(289-291)ctG>ctA	p.L97L	HPCAL1_uc002ral.3_Silent_p.L97L|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.L97L	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	97	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		GGGGCAAGCTGGAGCAGAAGC	0.637000													3	78					0	0	1	0	0
MARCH8	220972	broad.mit.edu	37	10	45954618	45954618	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr10:45954618T>C	uc001jch.2	-	6	1606	c.1367A>G	c.(1366-1368)tAt>tGt	p.Y456C	MARCH8_uc001jci.1_Missense_Mutation_p.Y174C|MARCH8_uc001jcj.1_Missense_Mutation_p.Y174C|MARCH8_uc001jck.1_Missense_Mutation_p.Y174C|DL492557_uc001jcf.3_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.Y43C	NM_001002266	NP_659458	Q5T0T0	MARH8_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 8 (MARCH8), transcript variant 7, mRNA.	174						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						AATGAGCACATACAAGGACCA	0.552000													11	172					0	0	1	0	0
SMPD2	6610	broad.mit.edu	37	6	109763769	109763769	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr6:109763769G>C	uc003pti.3	+	5	826	c.432G>C	c.(430-432)caG>caC	p.Q144H	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	144					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522000													4	176					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10394681	10394681	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr1:10394681G>A	uc001aqz.3	+	26	3107	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	KIF1B_uc001aqw.4_Missense_Mutation_p.V964I|KIF1B_uc001aqx.4_Missense_Mutation_p.V1010I|KIF1B_uc001aqy.3_Missense_Mutation_p.V984I|KIF1B_uc001ara.3_Missense_Mutation_p.V970I|KIF1B_uc001arb.3_Missense_Mutation_p.V996I	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1010					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCGTGTGGCTGTACAGGCCAT	0.517000													4	91					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970419	105970419	+	Silent	SNP	G	G	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chrX:105970419G>T	uc004eml.3	+	0	526	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	92	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGCCCGGGGCGCTTAACGCCT	0.677000													6	27					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57340448	57340448	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr4:57340448G>C	uc003hbv.3	+	4	541	c.501G>C	c.(499-501)gaG>gaC	p.E167D	SRP72_uc010ihe.3_Missense_Mutation_p.E167D	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	167					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CCTGACAGGAGAACCTGGGCC	0.448000													6	187					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70858315	70858315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr5:70858315C>T	uc003kbp.1	+	37	7974	c.7711C>T	c.(7711-7713)Caa>Taa	p.Q2571*	BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	2571					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATTACTACTCAATCTGAGAA	0.348000													17	82					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48276617	48276617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FK-A3SG-01A-11D-A22D-08	TCGA-FK-A3SG-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	990ad7fa-0593-423d-b23d-e97adece44c5	2d4134fe-7a6c-40bf-b28a-dace85f849a5	g.chr17:48276617delG	uc002iqm.3	-	4	567	c.441delC	c.(439-441)cccfs	p.P147fs		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	147					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	cgggaggtccggggggtccgg	0.652			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						2	4	---	---	---	---