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
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														41			5		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105174321	105174321	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:105174321C>T	uc001ypb.2	+	7	1860	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	INF2_uc001ypc.2_Missense_Mutation_p.P573S|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	573	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGAAGCTGCCATCCAACGT	0.657000														38			19		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201966606	201966606	+	Silent	SNP	C	T	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:201966606C>T	uc001gxd.3	+	4	1043	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RNPEP_uc001gxe.3_Silent_p.N39N	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	338					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGTCACCAACGCCAACTGGG	0.547000														94			6		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156628820	156628820	+	Splice_Site	SNP	C	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:156628820C>A	uc001fpp.3	+	14	2965	c.2629_splice	c.e14-1	p.A877_splice		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	877					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCAGGCCCGAGCTCTG	0.627000														6			2		0.0016	0.0016	1	1	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma									40			18		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49416133	49416133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr12:49416133G>A	uc001rta.4	-	51	16342	c.16342C>T	c.(16342-16344)Cga>Tga	p.R5448*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5448	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TAGATGCCTCGATTCTAGAAA	0.517000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				11			9		0	0	1	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931856	102931856	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:102931856T>C	uc022cbw.1	-	0	100	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	MORF4L2_uc004ekw.3_Missense_Mutation_p.M34V|MORF4L2_uc004ela.3_Missense_Mutation_p.M34V|MORF4L2_uc004elb.3_Missense_Mutation_p.M34V|MORF4L2_uc004ekx.3_Missense_Mutation_p.M34V|MORF4L2_uc004eky.3_Missense_Mutation_p.M34V|MORF4L2_uc010nos.3_Missense_Mutation_p.M34V|MORF4L2_uc004ekz.3_Missense_Mutation_p.M34V|MORF4L2_uc011mry.2_Missense_Mutation_p.M34V|MORF4L2_uc011mrz.2_Missense_Mutation_p.M34V|MORF4L2_uc004elc.3_Missense_Mutation_p.M34V|MORF4L2_uc004ele.3_Missense_Mutation_p.M34V|MORF4L2_uc004elf.3_Missense_Mutation_p.M34V|MORF4L2_uc011msa.2_Missense_Mutation_p.M34V|MORF4L2_uc011msb.2_Missense_Mutation_p.M34V|MORF4L2_uc011msc.2_Missense_Mutation_p.M34V|MORF4L2_uc011msd.2_Missense_Mutation_p.M34V|MORF4L2_uc004eld.3_Missense_Mutation_p.M34V	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	34					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCCTCTCATTTTACTTCTC	0.488000														61			52		0	0	1	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71145	71145	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrGL000209.1:71145G>C	uc002qui.2	+	1	50	c.39G>C	c.(37-39)ttG>ttC	p.L13F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.L10F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.L13F|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	13					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCTAGGGTTGTTCTTGGTCC	0.557000														20			3		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911765	32911765	+	Missense_Mutation	SNP	A	C	C	rs80359382		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr13:32911765A>C	uc001uub.1	+	10	3500	c.3273A>C	c.(3271-3273)ttA>ttC	p.L1091F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1091					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCAGATGTTATTTTCCAAGC	0.333000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				59			27		0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74981103	74981103	+	Missense_Mutation	SNP	C	T	T	rs34678567	by1000genomes	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr5:74981103C>T	uc003keh.4	-	9	1533	c.1336G>A	c.(1336-1338)Gca>Aca	p.A446T	POC5_uc010izu.3_Missense_Mutation_p.A329T|POC5_uc003keg.4_Missense_Mutation_p.A421T	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	446			A -> T (in dbSNP:rs34678567).		cell cycle	centriole		p.A446T(1)|p.A420T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACAGAAGATGCGGAAGCAGCC	0.552000														42			4		0	0	1	0	0
SYAP1	94056	broad.mit.edu	37	X	16774794	16774794	+	Silent	SNP	C	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:16774794C>A	uc004cxp.3	+	6	874	c.733C>A	c.(733-735)Cgg>Agg	p.R245R	SYAP1_uc011miv.2_Silent_p.R211R	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	Homo sapiens synapse associated protein 1 (SYAP1), transcript variant 1, mRNA.	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343000														36			9		7.48243e-07	7.67933e-07	1	1	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	T	T	rs121913503		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM									53			22		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914237	66914237	+	Silent	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:66914237G>A	uc002jhq.3	-	15	2338	c.1998C>T	c.(1996-1998)cgC>cgT	p.R666R	ABCA8_uc002jhp.3_Silent_p.R626R|ABCA8_uc010wqq.2_Silent_p.R666R|ABCA8_uc010wqr.2_Silent_p.R605R|ABCA8_uc002jhr.3_Silent_p.R666R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453000														76			6		0	0	1	0	0
AK022914	0	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	C	C	rs143820047	by1000genomes	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:16151010T>C	uc002zks.4	-	7		c.1647A>G								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		AGTTGTTCTCTGGAATCAATC	0.393000														7			3		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148049222	148049222	+	Splice_Site	SNP	G	T	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:148049222G>T	uc004fcp.3	+	15	3746	c.3267_splice	c.e15+1	p.L1089_splice	AFF2_uc004fcq.3_Splice_Site_p.L1079_splice|AFF2_uc004fcr.3_Splice_Site_p.L1050_splice|AFF2_uc011mxb.2_Splice_Site_p.L1054_splice|AFF2_uc004fcs.3_Splice_Site_p.L1054_splice|AFF2_uc011mxc.2_Splice_Site_p.L730_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1089					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348000														45			20		2.37509e-13	2.50348e-13	1	1	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	C	C			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr12:57485457T>C	uc001smz.3	+	1	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(6)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000														43			7		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr12:106820987C>T	uc001tlp.3	+	12	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_uc001tlq.3_Missense_Mutation_p.L314F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000														16			6		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990225	42990225	+	Missense_Mutation	SNP	C	G	G	rs143944527	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr2:42990225C>G	uc002rss.3	-	0	1177	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	365					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGCCCGGCTCTGGTGGAGGA	0.652000														49			4		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692083	20692083	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:20692083G>A	uc010tlc.2	+	0	215	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGACAGGCGGCTCCACACA	0.478000														86			22		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524372	37524372	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:37524372G>A	uc003aqv.1	-	9	1551	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	474					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGTGGGAGGCCCCAGGGGC	0.677000														43			22		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4386949	4386949	+	Silent	SNP	A	C	C			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:4386949A>C	uc002cwc.1	+	5	1065	c.999A>C	c.(997-999)ccA>ccC	p.P333P		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	333					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGCTGCGCCCACCCCCCAAGC	0.677000														12			5		0	0	1	0	0
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	G	G			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:50370414A>G	uc002pqj.3	-	1	158	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_uc002pqg.3_5'Flank|PNKP_uc002pqi.3_5'UTR|PNKP_uc021uxx.1_Silent_p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	16					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	p.P16P(12)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721000								Other BER factors						12			6		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72338030	72338030	+	RNA	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr7:72338030G>A	uc010lal.1	-	0		c.1626C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		acttgaacccgggaggcatcg	0.463000														6			2		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151258917	151258917	+	Silent	SNP	A	G	G			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:151258917A>G	uc001exq.3	+	1	248	c.150A>G	c.(148-150)gaA>gaG	p.E50E	ZNF687_uc001exp.1_Silent_p.E59E|ZNF687_uc009wmo.3_Silent_p.E50E|ZNF687_uc009wmp.3_Silent_p.E50E	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGGAAGTGAATCTGAAGACA	0.572000														53			32		0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76668100	76668100	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:76668100G>A	uc001xsh.3	+	9	1441	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	C14orf118_uc001xsi.3_Nonsense_Mutation_p.W447*|C14orf118_uc001xsl.3_Non-coding_Transcript|C14orf118_uc001xsn.1_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	452										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		AGCTCTGAGTGGTTGGTGAGG	0.488000														56			14		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91951	91951	+	RNA	SNP	C	G	G			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrGL000211.1:91951C>G	uc003bnz.1	+	6		c.1307C>G			FLJ43315_uc003boa.3_Intron					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAATTTATCTATAGATTTC	0.318000														15			3		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	Splice_Site	INS	-	T	T	rs35342965	by1000genomes	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr11:102738793_102738794insT	uc001phk.3	-	5	727	c.630_splice	c.e5+1	p.T210_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	210					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TGAGGAACAAGTGGTGCCTAAG	0.416													---	7	---	---	4	---					
SAMD4A	23034	broad.mit.edu	37	14	55236839	55236840	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:55236839_55236840insA	uc001xbb.3	+	7	1919_1920	c.1611_1612insA	c.(1609-1614)cagaaafs	p.Q537fs	SAMD4A_uc001xbc.3_Frame_Shift_Ins_p.Q450fs|SAMD4A_uc001xbg.2_Frame_Shift_Ins_p.Q129fs	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	538					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGAGACACAGAAAAAAAGATT	0.416													---	99	---	---	26	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	242	---	---	13	---					
FBXL19	54620	broad.mit.edu	37	16	30939204	30939204	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:30939204delC	uc002eab.2	+	4	765	c.607delC	c.(607-609)cccfs	p.P203fs	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Frame_Shift_Del_p.P145fs	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	203	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711													---	4	---	---	2	---					
