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
C1orf85	112770	broad.mit.edu	37	1	156263002	156263002	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:156263002T>C	ENST00000362007.1	-	6	1082		c.e6-2		C1orf85_ENST00000482579.1_Splice_Site	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85						positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGCATCGACCTAGAGCAAGCA	0.622													3	121	---	---	---	---
CD48	962	broad.mit.edu	37	1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	ENST00000368045.3	-	2	209	c.170C>A	c.(169-171)aCc>aAc	p.T57N	CD48_ENST00000368046.3_Missense_Mutation_p.T57N			P09326	CD48_HUMAN	CD48 molecule	57	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.T57N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438													4	112	---	---	---	---
DHX9	1660	broad.mit.edu	37	1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:182812496A>G	ENST00000367549.3	+	3	289	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	60	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.N60S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCACAAAGCAATGCTGCCAGA	0.363													3	135	---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S|C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	325						integral to membrane		p.G325S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTTCCTGATGGTGGAATTAC	0.284													4	155	---	---	---	---
CNGA3	1261	broad.mit.edu	37	2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	ENST00000393504.1	+	8	1765	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	450					signal transduction|visual perception	integral to membrane	cGMP binding	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537													17	37	---	---	---	---
C1QL2	165257	broad.mit.edu	37	2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	ENST00000272520.3	-	1	1278	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	220	C1q.					collagen		p.W220S(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647										HNSCC(49;0.14)			6	37	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	ENST00000493187.2	-	3	717	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	149					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.P149L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	117	---	---	---	---
FAM171B	165215	broad.mit.edu	37	2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	ENST00000304698.5	+	8	2406	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	735						integral to membrane	DNA binding	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488													25	63	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	ENST00000304636.3	+	50	4389	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.K1407*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAAATAGCAAATTCACCTA	0.398													5	115	---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:214878685A>G	ENST00000331683.5	+	13	1506	c.1411A>G	c.(1411-1413)Aga>Gga	p.R471G	SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	471					cilium assembly	cilium axoneme|flagellar axoneme		p.R471G(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAAAGATGCAGATGTACTTT	0.343													4	245	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	ENST00000295452.4	-	4	530	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAAACGACTGTCAAACCAGG	0.294													14	62	---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74005375	74005375	+	Silent	SNP	T	T	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	986	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G986G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562													5	32	---	---	---	---
HIST1H2BO	8348	broad.mit.edu	37	6	27861558	27861558	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	ENST00000303806.4	+	1	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	106					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637													5	64	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100693835	100693835	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	ENST00000306151.4	+	7	12857	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4265	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L4265L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463													8	90	---	---	---	---
LAMB1	3912	broad.mit.edu	37	7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	ENST00000393561.1	-	25	4340	c.4156G>A	c.(4156-4158)Gag>Aag	p.E1386K	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1362	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCTCGCTCCATCATCACG	0.542													145	302	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C			Q9HCM2	PLXA4_HUMAN	plexin A4	122	Sema.					integral to membrane|intracellular|plasma membrane		p.Y122C(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552													4	95	---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	425					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.G425V(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCAGCATGGAGCTTGTGTT	0.373													4	146	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	ENST00000307599.4	-	5	637	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	180					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.V180I(3)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557													6	80	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	ENST00000597505.1	-	5	843	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	282					intracellular signal transduction			p.L282V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393													37	91	---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	ENST00000545968.1	-	23	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726H	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642													10	26	---	---	---	---
CCDC88B	283234	broad.mit.edu	37	11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	882					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627													3	18	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65270044	65270044	+	RNA	SNP	T	T	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:65270044T>A	ENST00000534336.1	+	0	4812					NR_002819.2																						TAGTTCAGCTTGAATGTCTCT	0.308													4	109	---	---	---	---
CYP27B1	1594	broad.mit.edu	37	12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:58160784C>T	ENST00000228606.4	-	1	250	c.41G>A	c.(40-42)cGc>cAc	p.R14H		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	14					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.R14H(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCAGCGGACGCGATGGAACAC	0.627													7	190	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88568465	88568465	+	Silent	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	ENST00000266712.6	+	9	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	427						integral to membrane	binding	p.D427D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343													9	201	---	---	---	---
FAM192A	80011	broad.mit.edu	37	16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:57206263T>C	ENST00000309137.8	-	4	506	c.248A>G	c.(247-249)gAt>gGt	p.D83G	FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	83						nucleus		p.D83G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCATCTTCATCTAAGCCTCT	0.368													3	137	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			59	155	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	ENST00000264828.3	-	19	1808	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	575	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G575S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567													6	256	---	---	---	---
CRYAA	1409	broad.mit.edu	37	21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	24					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.D24N(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617													32	117	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44938412	44938412	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R|KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	987					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								4	59	---	---	---	---
MT-CO1	4512	broad.mit.edu	37	M	6460	6460	+	Silent	SNP	G	G	A			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrM:6460G>A	ENST00000361624.2	+	1	557	c.557G>A	c.(556-558)tGa>tAa	p.*186*						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTCTTCGTCTGATCCGTCCT	0.473													10	62	---	---	---	---
