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_status	validation_method	validation_tumor_sample	validation_alt_allele	filter
CROCCL1	84809	broad.mit.edu	37	1	16957420	16957420	+	RNA	SNP	G	C	C	rs11589767		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:16957420G>C	uc009vov.1	-	1		c.185C>G			CROCCL1_uc001aze.2_RNA|CROCCL1_uc001azf.2_RNA|CROCCL1_uc001azg.1_RNA|CROCCL1_uc001azi.1_RNA	NR_026752				Homo sapiens mRNA for FLJ00313 protein.												0						AGGGCGGAGAGAATCAGGGCA	0.701													3	12	---	---	---	---	PASS
NBPF3	84224	broad.mit.edu	37	1	21808232	21808232	+	Missense_Mutation	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:21808232G>A	uc001ber.2	+	13	1926	c.1576G>A	c.(1576-1578)GAA>AAA	p.E526K	NBPF3_uc001bes.2_Missense_Mutation_p.E470K|NBPF3_uc009vqb.2_Missense_Mutation_p.E514K|NBPF3_uc010odm.1_Missense_Mutation_p.E456K	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	526	NBPF 4.					cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGAGGAAGAACACGTTGG	0.458													16	39	---	---	---	---	PASS
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:145367739A>G	uc001end.3	+	85	10595	c.10560A>G	c.(10558-10560)AAA>AAG	p.K3520K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3445											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.244													4	106	---	---	---	---	PASS
TNN	63923	broad.mit.edu	37	1	175046826	175046826	+	Missense_Mutation	SNP	G	A	A	rs41266078	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:175046826G>A	uc001gkl.1	+	2	385	c.272G>A	c.(271-273)CGC>CAC	p.R91H	TNN_uc010pmx.1_Missense_Mutation_p.R91H	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	91					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACAACATCCGCCTTCAGACG	0.602													3	54	---	---	---	---	PASS
TRAF3IP3	80342	broad.mit.edu	37	1	209950760	209950760	+	Missense_Mutation	SNP	C	G	G	rs669694	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:209950760C>G	uc001hho.2	+	12	1407	c.1117C>G	c.(1117-1119)CAA>GAA	p.Q373E	TRAF3IP3_uc001hhl.2_Missense_Mutation_p.Q353E|TRAF3IP3_uc001hhm.1_Intron|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.Q353E|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.Q373E	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	TRAF3-interacting JNK-activating modulator	373	Cytoplasmic (Potential).|Potential.					integral to membrane	protein binding			large_intestine(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGAGCACCAGCAACTGCAGGC	0.527													4	86	---	---	---	---	PASS
DNMT3A	1788	broad.mit.edu	37	2	25467186	25467186	+	Silent	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	uc002rgc.2	-	15	1946	c.1689G>A	c.(1687-1689)GTG>GTA	p.V563V	DNMT3A_uc002rgd.2_Silent_p.V563V|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.V374V	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	563	PHD-type; atypical.|Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			Mis|F|N|S		AML								8	27	---	---	---	---	PASS
CD8A	925	broad.mit.edu	37	2	87015654	87015654	+	Missense_Mutation	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	uc002srt.2	-	5	1544	c.655C>T	c.(655-657)CGG>TGG	p.R219W	RMND5A_uc002srs.3_Intron|CD8A_uc002srv.2_Missense_Mutation_p.R219W|CD8A_uc010ytn.1_Missense_Mutation_p.R260W|CD8A_uc002sru.2_Missense_Mutation_p.R182W	NM_001768	NP_001759	P01732	CD8A_HUMAN	CD8 antigen alpha polypeptide isoform 1	219	Cytoplasmic (Potential).				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			ovary(1)	1						GAGACTCACCGGGGACATTTG	0.507													5	21	---	---	---	---	PASS
WASH2P	375260	broad.mit.edu	37	2	114356239	114356239	+	Silent	SNP	T	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:114356239T>C	uc002tkh.2	+	6	775	c.717T>C	c.(715-717)CGT>CGC	p.R239R	WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA	NM_182905	NP_878908			WAS protein family homolog 1												0						CCTTTGCCCGTGTGTCAGACT	0.642													3	8	---	---	---	---	PASS
GLI2	2736	broad.mit.edu	37	2	121746685	121746685	+	Silent	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:121746685C>T	uc010flp.2	+	13	3225	c.3195C>T	c.(3193-3195)GAC>GAT	p.D1065D	GLI2_uc002tmq.1_Silent_p.D737D|GLI2_uc002tmr.1_Silent_p.D720D|GLI2_uc002tmt.3_Silent_p.D737D|GLI2_uc002tmu.3_Silent_p.D720D	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1065					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				TTCCAGACGACGTGGTGCAGT	0.687													7	93	---	---	---	---	PASS
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	A	A	rs139541363	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:129026419G>A	uc002tpt.3	-	2	587	c.553C>T	c.(553-555)CGA>TGA	p.R185*		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	Lumenal (Potential).|3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(1)		pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627													5	79	---	---	---	---	PASS
TUBA3D	113457	broad.mit.edu	37	2	132237011	132237011	+	Silent	SNP	G	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	uc002tsu.3	+	3	464	c.357G>C	c.(355-357)CTG>CTC	p.L119L		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498													30	190	---	---	---	---	PASS
GPR78	27201	broad.mit.edu	37	4	8584289	8584289	+	Missense_Mutation	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	uc003glk.2	+	2	1119	c.700C>T	c.(700-702)CGG>TGG	p.R234W	CPZ_uc003gll.2_RNA	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|ovary(2)	6						CCAGCAGAAGCGGCGCCGCCA	0.637													25	112	---	---	---	---	PASS
CCDC127	133957	broad.mit.edu	37	5	205601	205601	+	Silent	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:205601G>A	uc003jam.1	-	3	694	c.594C>T	c.(592-594)CCC>CCT	p.P198P		NM_145265	NP_660308	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	198											0			all cancers(22;0.0236)|Lung(60;0.113)			CAGCGGCGACGGGGTCGACGG	0.522													16	82	---	---	---	---	PASS
IRX2	153572	broad.mit.edu	37	5	2749500	2749500	+	Silent	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:2749500G>A	uc003jda.2	-	2	893	c.651C>T	c.(649-651)GAC>GAT	p.D217D	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Silent_p.D217D	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GCTCACCTTCGTCCTCTGCCG	0.682													5	61	---	---	---	---	PASS
ANKH	56172	broad.mit.edu	37	5	14711313	14711313	+	Missense_Mutation	SNP	T	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	uc003jfm.3	-	12	1803	c.1472A>G	c.(1471-1473)AAT>AGT	p.N491S	ANKH_uc003jfl.3_Missense_Mutation_p.N204S	NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	progressive ankylosis protein	491	Cytoplasmic (Potential).				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			upper_aerodigestive_tract(1)	1						GCCTTATTCATTCTCCTCTCT	0.532													51	176	---	---	---	---	PASS
MRPS30	10884	broad.mit.edu	37	5	44809374	44809374	+	Missense_Mutation	SNP	C	G	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	uc003joh.2	+	1	348	c.310C>G	c.(310-312)CGC>GGC	p.R104G	MRPS30_uc003joi.1_5'Flank	NM_016640	NP_057724	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome				0	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.493													5	26	---	---	---	---	PASS
RASGRF2	5924	broad.mit.edu	37	5	80409729	80409729	+	Silent	SNP	T	C	C	rs10942942	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:80409729T>C	uc003kha.1	+	15	2460	c.2460T>C	c.(2458-2460)AGT>AGC	p.S820S	RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TAAAACGAAGTATTCAAAAAG	0.478													3	55	---	---	---	---	PASS
MCC	4163	broad.mit.edu	37	5	112478967	112478967	+	Missense_Mutation	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:112478967C>T	uc003kqj.3	-	3	792	c.262G>A	c.(262-264)GTC>ATC	p.V88I	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.V278I|MCC_uc011cwb.1_Missense_Mutation_p.V88I|MCC_uc010jcd.1_Missense_Mutation_p.V50I	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	88					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGCAATGACGCTGTGGAGC	0.547													10	34	---	---	---	---	PASS
FAM170A	340069	broad.mit.edu	37	5	118969960	118969960	+	Missense_Mutation	SNP	C	T	T	rs328694	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:118969960C>T	uc003ksm.2	+	3	727	c.517C>T	c.(517-519)CCC>TCC	p.P173S	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.2_Missense_Mutation_p.P173S|FAM170A_uc003kso.2_Missense_Mutation_p.P126S	NM_182761	NP_877438	A1A519	F170A_HUMAN	family with sequence similarity 170, member A	173						intracellular	zinc ion binding			skin(1)	1						AGGTACTCCCCCCTCTGATGT	0.542													4	104	---	---	---	---	PASS
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Missense_Mutation	SNP	C	T	T	rs143733594		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:177163583C>T	uc010jkp.1	-	13	851	c.430G>A	c.(430-432)GAA>AAA	p.E144K	FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Missense_Mutation_p.E144K	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	hypothetical protein LOC285596	144								p.E144K(1)		skin(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458													17	64	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	9	66455023	66455023	+	RNA	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:66455023G>A	uc010mng.1	-	2		c.274C>T			uc004aec.2_5'Flank					Homo sapiens cDNA, FLJ98602.																		GCAGGAAACAGGAATCCATCA	0.483													2	4	---	---	---	---	PASS
OR13D1	286365	broad.mit.edu	37	9	107456763	107456763	+	Missense_Mutation	SNP	T	C	C	rs10991359	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:107456763T>C	uc011lvs.1	+	1	61	c.61T>C	c.(61-63)TTC>CTC	p.F21L		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D,	21	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TCATGTCCTTTTCTATACTAC	0.368													3	55	---	---	---	---	PASS
CTNNAL1	8727	broad.mit.edu	37	9	111735029	111735029	+	Missense_Mutation	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	uc004bdo.1	-	9	1315	c.1273G>A	c.(1273-1275)GGA>AGA	p.G425R	CTNNAL1_uc010mts.1_Intron|CTNNAL1_uc010mtt.1_Missense_Mutation_p.G425R|CTNNAL1_uc004bdp.1_Missense_Mutation_p.G425R|CTNNAL1_uc004bdq.1_5'UTR	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	catenin, alpha-like 1	425					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			ovary(1)	1				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398													29	107	---	---	---	---	PASS
SEC61A2	55176	broad.mit.edu	37	10	12200105	12200105	+	Splice_Site	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:12200105G>A	uc001ile.2	+	9	1122	c.975_splice	c.e9+1	p.A325_splice	SEC61A2_uc010qbq.1_Splice_Site_p.A303_splice|SEC61A2_uc001ilf.3_Splice_Site|SEC61A2_uc001ilh.3_Splice_Site|SEC61A2_uc001ilg.3_Splice_Site_p.A325_splice	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Sec61 alpha form 2 isoform a							endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368													10	45	---	---	---	---	PASS
ADAMTS14	140766	broad.mit.edu	37	10	72500856	72500856	+	Missense_Mutation	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:72500856G>A	uc001jrh.2	+	12	1862	c.1862G>A	c.(1861-1863)CGC>CAC	p.R621H	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R624H|ADAMTS14_uc001jri.1_Missense_Mutation_p.R144H	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	621	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6						TGTGCCAAGCGCAACTCCTAC	0.627													9	74	---	---	---	---	PASS
IGSF9B	22997	broad.mit.edu	37	11	133790980	133790980	+	Silent	SNP	G	A	A	rs114264751	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr11:133790980G>A	uc001qgx.3	-	18	2871	c.2640C>T	c.(2638-2640)GCC>GCT	p.A880A		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	880	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCTCCTCGGCGAAGGGGA	0.657													26	100	---	---	---	---	PASS
AKAP3	10566	broad.mit.edu	37	12	4736294	4736294	+	Missense_Mutation	SNP	T	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	uc001qnb.3	-	4	2003	c.1774A>G	c.(1774-1776)AGT>GGT	p.S592G		NM_006422	NP_006413	O75969	AKAP3_HUMAN	A-kinase anchor protein 3	592					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						AAGAAAACACTCCTTAGGTCC	0.468													21	92	---	---	---	---	PASS
NDN	4692	broad.mit.edu	37	15	23932103	23932103	+	Missense_Mutation	SNP	G	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:23932103G>T	uc001ywk.2	-	1	348	c.262C>A	c.(262-264)CCG>ACG	p.P88T		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	88					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGGGCCCGGCTGGGCCGCG	0.726									Prader-Willi_syndrome				8	41	---	---	---	---	PASS
FAM103A1	83640	broad.mit.edu	37	15	83658665	83658665	+	Missense_Mutation	SNP	A	G	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:83658665A>G	uc002bjl.1	+	4	388	c.203A>G	c.(202-204)GAC>GGC	p.D68G	C15orf40_uc010uon.1_Intron	NM_031452	NP_113640	Q9BTL3	F103A_HUMAN	hypothetical protein LOC83640	68											0						AGAGGCAGGGACAACAGATGG	0.433													6	19	---	---	---	---	PASS
CLEC18B	497190	broad.mit.edu	37	16	74455141	74455141	+	Missense_Mutation	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	uc002fct.2	-	1	228	c.28C>T	c.(28-30)CGG>TGG	p.R10W	CLEC18B_uc002fcu.2_Missense_Mutation_p.R10W|CLEC18B_uc010vmu.1_Missense_Mutation_p.R10W|CLEC18B_uc010vmw.1_Missense_Mutation_p.R10W	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region	sugar binding				0						AGATGCCCCCGGCCAGGGGAG	0.677													12	115	---	---	---	---	PASS
TUSC5	286753	broad.mit.edu	37	17	1198837	1198837	+	Missense_Mutation	SNP	G	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:1198837G>T	uc002fsi.1	+	2	779	c.440G>T	c.(439-441)CGC>CTC	p.R147L		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	147					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGCTGGGCCGCCTGGCTCGG	0.622													33	136	---	---	---	---	PASS
CCDC144C	348254	broad.mit.edu	37	17	20242934	20242934	+	RNA	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:20242934G>A	uc010cqy.1	+	5		c.1023G>A				NR_023380				Homo sapiens cDNA FLJ59693 complete cds, moderately similar to Ankyrin repeat domain-containing protein 26.												0						ATTAAAACTCGTCATAAATGA	0.368													17	75	---	---	---	---	PASS
C17orf56	146705	broad.mit.edu	37	17	79207799	79207799	+	Silent	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	uc002jzu.1	-	5	379	c.357G>A	c.(355-357)AAG>AAA	p.K119K	C17orf56_uc002jzr.1_5'Flank|C17orf56_uc002jzs.1_5'UTR|C17orf56_uc002jzt.1_5'UTR|C17orf56_uc002jzv.1_5'UTR	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	hypothetical protein LOC146705	119						integral to membrane					0	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCGCGCGAACCTTCTGGTACA	0.662													4	39	---	---	---	---	PASS
CSE1L	1434	broad.mit.edu	37	20	47692015	47692015	+	Silent	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	uc002xty.2	+	12	1427	c.1293C>T	c.(1291-1293)ATC>ATT	p.I431I	CSE1L_uc010zyg.1_Silent_p.I214I|CSE1L_uc010ghx.2_Silent_p.I375I|CSE1L_uc010ghy.2_Silent_p.I80I|CSE1L_uc010zyh.1_Silent_p.I80I	NM_001316	NP_001307	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like protein	431					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			large_intestine(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403													4	100	---	---	---	---	PASS
psiTPTE22	387590	broad.mit.edu	37	22	17178853	17178853	+	RNA	SNP	C	G	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:17178853C>G	uc002zls.1	+	3		c.935C>G								Homo sapiens cDNA FLJ10437 fis, clone NT2RP1000581.												0						AACTCAGCCTCGGACAGCCTG	0.567													9	19	---	---	---	---	PASS
DERL3	91319	broad.mit.edu	37	22	24179922	24179922	+	Missense_Mutation	SNP	G	C	C	rs3177243	byFrequency	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:24179922G>C	uc002zyh.2	-	5	472	c.447C>G	c.(445-447)TTC>TTG	p.F149L	DERL3_uc002zyk.3_Missense_Mutation_p.F149L|DERL3_uc002zyi.2_Missense_Mutation_p.F149L|DERL3_uc002zyj.2_Intron	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN	derlin 3 isoform 2	149	Lumenal (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)	1						ACGGTGCCTGGAAAGTGAGCA	0.642													4	53	---	---	---	---	PASS
PICK1	9463	broad.mit.edu	37	22	38467745	38467745	+	Missense_Mutation	SNP	C	T	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	uc003auq.2	+	8	940	c.550C>T	c.(550-552)CAC>TAC	p.H184Y	PICK1_uc003aur.2_Missense_Mutation_p.H184Y|PICK1_uc003aus.2_Missense_Mutation_p.H184Y|PICK1_uc003aut.2_Missense_Mutation_p.H184Y	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	protein interacting with C kinase 1	184	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding				0	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617													17	106	---	---	---	---	PASS
Unknown	0	broad.mit.edu	37	M	12773	12773	+	RNA	SNP	G	A	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:12773G>A	uc004cox.3	+	1		c.437G>A			uc004coy.2_5'Flank					Homo sapiens NADH dehydrogenase subunit 5 (MTND5) mRNA, RNA 5, complete cds; mitochondrial gene for mitochondrial product.																		CGGCTGAGAGGGCGTAGGAAT	0.418													6	20	---	---	---	---	PASS
FLJ10213	55096	broad.mit.edu	37	3	73111481	73111482	+	Frame_Shift_Ins	INS	-	A	A	rs147131789	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr3:73111481_73111482insA	uc003dpj.2	+	1	672_673	c.249_250insA	c.(247-252)AACAGAfs	p.N83fs	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	hypothetical protein LOC55096	83_84							protein binding				0		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;3.9e-05)|BRCA - Breast invasive adenocarcinoma(55;7.72e-05)|LUSC - Lung squamous cell carcinoma(21;0.00156)|Lung(16;0.00487)|KIRC - Kidney renal clear cell carcinoma(39;0.012)|Kidney(39;0.0139)		CTGGGAAAAACAGACAGTATCC	0.480													13	8	---	---	---	---	
LARP1	23367	broad.mit.edu	37	5	154173389	154173390	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:154173389_154173390insC	uc003lvp.2	+	6	1327_1328	c.898_899insC	c.(898-900)GCCfs	p.A300fs	LARP1_uc003lvo.2_Frame_Shift_Ins_p.A223fs|LARP1_uc010jie.1_Frame_Shift_Ins_p.A95fs	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	300							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGTGCCCGTGGCCCCCCCCACC	0.644													345	7	---	---	---	---	
TBC1D13	54662	broad.mit.edu	37	9	131553912	131553912	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	uc010myj.2	+	5	363	c.240delG	c.(238-240)CAGfs	p.Q80fs	TBC1D13_uc010myk.2_Frame_Shift_Del_p.Q80fs|TBC1D13_uc010myl.2_Intron	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0						TGATCATCCAGCCTGGCATTG	0.552													67	14	---	---	---	---	
TBX3	6926	broad.mit.edu	37	12	115114119	115114120	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	uc001tvt.1	-	6	2061_2062	c.1097_1098delAA	c.(1096-1098)AAAfs	p.K366fs	TBX3_uc001tvu.1_Frame_Shift_Del_p.K346fs	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	366					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545													91	14	---	---	---	---	
VPS13C	54832	broad.mit.edu	37	15	62214732	62214734	+	In_Frame_Del	DEL	ACA	-	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	uc002agz.2	-	54	6911_6913	c.6837_6839delTGT	c.(6835-6840)GTTGTA>GTA	p.2279_2280VV>V	VPS13C_uc002aha.2_In_Frame_Del_p.2236_2237VV>V|VPS13C_uc002ahb.1_In_Frame_Del_p.2279_2280VV>V|VPS13C_uc002ahc.1_In_Frame_Del_p.2236_2237VV>V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2279_2280					protein localization					ovary(2)	2						AATGGATTCTACAACAACACCAC	0.365													165	25	---	---	---	---	
Unknown	0	broad.mit.edu	37	M	10946	10947	+	RNA	INS	-	C	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08									Somatic	Phase_I	Capture				Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:10946_10947insC	uc004cov.3	+	1		c.369_370insC			uc004cow.1_5'Flank|uc004cox.3_5'Flank					Homo sapiens potential LAG1 interactor mRNA, partial cds.																		ACCCCCTAACAACCCCCCTCCT	0.455													50	14	---	---	---	---	
