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
DNAH5	1767	broad.mit.edu	37	5	13919350	13919350	+	Silent	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	uc003jfd.2	-	6	952	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	304	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTTTTCAATTGTTCCAAA	0.507000									Kartagener syndrome					218			28		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38678119	38678119	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	uc010lwp.3	+	2	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_uc011lby.1_Missense_Mutation_p.E258Q|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.E408Q|TACC1_uc003xlz.3_Missense_Mutation_p.E258Q|TACC1_uc003xmc.4_Missense_Mutation_p.E258Q|TACC1_uc011lbz.2_Missense_Mutation_p.E469Q|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.E453Q|TACC1_uc011lcb.2_Missense_Mutation_p.E258Q|TACC1_uc011lcc.2_Missense_Mutation_p.E258Q|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.E258Q|TACC1_uc010lwq.3_Missense_Mutation_p.E258Q	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	453	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAAATCTTAGAATCACCCAA	0.453000														212			104		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	uc001geb.1	+	4	2044	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637000														45			5		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67046685	67046685	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	uc009yrn.1	+	2	471	c.205C>G	c.(205-207)Cga>Gga	p.R69G		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	69	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R69R(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592000														71			6		0	0	1	0	0
C6orf10	10665	broad.mit.edu	37	6	32261116	32261116	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	uc021yvt.1	-	22	1507	c.1334A>C	c.(1333-1335)aAg>aCg	p.K445T	C6orf10_uc011dpx.2_Missense_Mutation_p.K436T|C6orf10_uc021yvs.1_Missense_Mutation_p.K362T|C6orf10_uc011dpz.2_Missense_Mutation_p.K443T|C6orf10_uc021yvu.1_Missense_Mutation_p.K443T|C6orf10_uc021yvv.1_Missense_Mutation_p.K429T	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	445						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGCCTCACTCTTCTTTTCTTG	0.458000														345			27		0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64096085	64096085	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	uc003jtn.1	+	7	899	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_uc003jtl.3_Missense_Mutation_p.G227D|CWC27_uc003jtm.3_Missense_Mutation_p.G227D|CWC27_uc010iwt.1_Missense_Mutation_p.G227D	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	227					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358000														94			4		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2582	2582	+	RNA	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chrGL000237.1:2582C>T	uc011mgu.1	-	0		c.105G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cagagcgagacgagccacggt	0.607000														15			3		0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620400	82620400	+	RNA	SNP	T	C	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:82620400T>C	uc021ssl.1	+	18		c.3880T>C			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		GACCCAAGGGTCAGCCTGAGT	0.672000														19			6		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646265	23646265	+	Silent	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	uc002dlx.1	-	3	1802	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	534					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCGACAGGCTAGAAGTTGGCA	0.418000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						127			5		0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100013489	100013489	+	Silent	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	uc001kpa.1	-	10	1807	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	552	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627000														49			23		0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257924	34257924	+	Missense_Mutation	SNP	G	A	A	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	uc003zua.4	-	10	1801	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	561					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398000														56			112		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45398797	45398797	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	uc001zun.3	-	15	2077	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_uc010bea.3_Missense_Mutation_p.R625Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	625					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.R625*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGTGTTCTCGGCCCCGGAA	0.557000														165			31		0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														24			3		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136029281	136029281	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	uc004ccw.3	-	6	1008	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Missense_Mutation_p.R226C|RALGDS_uc010nac.1_Missense_Mutation_p.R107C|RALGDS_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACACGCCTGCGCTCATAGGGG	0.602000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									97			44		0	0	1	0	0
ZNF271	10778	broad.mit.edu	37	18	32887852	32887852	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr18:32887852G>A	uc002kyq.4	+	2	2256	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	ZNF271_uc002kyp.4_Missense_Mutation_p.D422N|ZNF271_uc002kyr.4_Missense_Mutation_p.D422N					Homo sapiens zinc finger protein 271 (ZNF271), transcript variant 1, non-coding RNA.											large_intestine(3)|lung(9)	12						GAATGCTGTTGATTATTGATG	0.373000														31			15		0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57348316	57348316	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	uc002ixk.2	+	7	873	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_uc002ixj.3_Missense_Mutation_p.M244V|GDPD1_uc021uas.1_Missense_Mutation_p.M244V	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	244	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279000														76			34		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692359	12692359	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	uc002mtz.2	-	4	659	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCAGTGTGAGATCTCATGTG	0.443000														131			72		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	8	8094672	8094672	+	RNA	SNP	T	C	C	rs73199790	by1000genomes	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:8094672T>C	uc011kwt.2	+	6		c.901T>C			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						CCAGAAGCCATTGTGTCACTG	0.602000														41			3		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932761	44932761	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	uc002oze.1	-	5	2629	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ZNF229_uc010ejk.1_Missense_Mutation_p.R386K|ZNF229_uc010ejl.1_Missense_Mutation_p.R726K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517000														45			4		0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953529	50953529	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	uc009xog.3	-	10	1605	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	OGDHL_uc001jie.3_Missense_Mutation_p.R497Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R440Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R288Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R288Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V523V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGCCACGCCGGCGGTAACA	0.572000														73			26		0	0	1	0	0
C1orf38	9473	broad.mit.edu	37	1	28209255	28209255	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:28209255G>A	uc001bpc.4	+	3	1448	c.1420G>A	c.(1420-1422)Ggc>Agc	p.G474S	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Missense_Mutation_p.G278S|C1orf38_uc010ofo.2_Missense_Mutation_p.G345S	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	474	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTTCCTGGGCCTGCGGCT	0.602000														84			6		0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2545	2545	+	RNA	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chrGL000237.1:2545G>A	uc011mgu.1	-	0		c.142C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		ctccagccgcgctgccatctc	0.627000														33			8		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	uc010dxp.3	+	21	3418	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_uc010dxo.3_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqf.4_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxq.3_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxr.3_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqj.4_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxs.3_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxt.1_Missense_Mutation_p.D240Y|SMARCA4_uc002mqh.4_Missense_Mutation_p.D143Y|SMARCA4_uc002mqi.1_Missense_Mutation_p.D223Y	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1020					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627000			"""F, N, Mis"""		NSCLC									33			18		9.16793e-09	9.45002e-09	1	1	0
FAM83B	222584	broad.mit.edu	37	6	54735129	54735129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	uc003pck.3	+	1	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403000														141			55		0	0	1	0	0
SDR39U1	56948	broad.mit.edu	37	14	24909494	24909494	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	uc001wpm.3	-	5	709	c.677C>A	c.(676-678)gCt>gAt	p.A226D	KHNYN_uc010tpc.2_3'UTR|KHNYN_uc001wph.4_3'UTR|KHNYN_uc010alw.3_3'UTR|SDR39U1_uc001wpi.3_Missense_Mutation_p.A118D|AK056368_uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 39U, member 1 (SDR39U1), mRNA.	252							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GGCAAACTCAGCATTAGTGGC	0.617000														37			21		4.96729e-08	5.04255e-08	1	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608458	81608458	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	uc003khv.3	+	8	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_uc003khw.3_Missense_Mutation_p.S54A	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	54					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CAACAAGTTGTCCATCCAGAG	0.413000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		213			17		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183574	49183574	+	Silent	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:49183574C>T	uc010xzv.2	+	4	721	c.594C>T	c.(592-594)acC>acT	p.T198T	SEC1_uc002pka.3_Silent_p.T158T|SEC1_uc010xzw.2_Silent_p.T115T|SEC1_uc010ema.3_Silent_p.T104T					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		TGCACAGCACCCTGGCCCCCA	0.667000														18			4		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63972937	63972937	+	Silent	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	uc002amp.3	-	34	6412	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2088	B30.2/SPRY.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCCAACACACGTGCCTTCAT	0.373000														168			23		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674102	167674102	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:167674102A>G	uc010jjd.3	+	26	6131	c.6131A>G	c.(6130-6132)aAc>aGc	p.N2044S	ODZ2_uc003lzr.4_Missense_Mutation_p.N1814S|ODZ2_uc003lzt.4_Missense_Mutation_p.N1417S|ODZ2_uc010jje.3_Missense_Mutation_p.N1308S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGATGGTCAACCTCCAAAGT	0.522000														119			61		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28609684	28609684	+	Silent	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	uc001urw.3	-	11	1627	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.C515C	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	515					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438000			"""Mis, O"""		"""AML, ALL"""									153			18		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190411	72190411	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	uc002atl.4	-	24	4906	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_uc010biq.3_Nonsense_Mutation_p.L1098*|MYO9A_uc002atn.1_Nonsense_Mutation_p.L1459*|MYO9A_uc002atk.3_Nonsense_Mutation_p.L202*|MYO9A_uc002atm.1_Nonsense_Mutation_p.L202*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1478	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393000														114			10		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61911645	61911645	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	uc010deb.1	-	7	1282	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_uc010wpt.1_Missense_Mutation_p.G274E|SMARCD2_uc010dea.1_Missense_Mutation_p.G247E	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	322	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567000											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			7		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276487	186276487	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	uc001gru.4	+	6	1687	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P505S|PRG4_uc009wyl.3_Missense_Mutation_p.P453S|PRG4_uc009wym.3_Missense_Mutation_p.P412S|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	546	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P546P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGTCTGCACCCACCACTCC	0.642000														81			42		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									74			26		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060317	111060317	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	uc001dzt.1	-	0	1481	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	365						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGTGTTTGCCCGAGGATCTGC	0.557000														59			73		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764859	156764859	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr4:156764859C>T	uc003ipe.1	-	4	882	c.835G>A	c.(835-837)Gca>Aca	p.A279T		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	279						integral to membrane|plasma membrane											GTTACCCTTGCGTGCATTCCC	0.448000														105			35		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112944825	112944825	+	Silent	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	uc002tho.1	+	7	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_uc010fki.1_Silent_p.L308L|FBLN7_uc010fkj.1_Silent_p.L220L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	354					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATCACGCTCTTCCGCATGG	0.647000														176			15		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147889456	147889456	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	uc021yfj.1	-	4	686	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_uc021yfg.1_Nonsense_Mutation_p.Y213*|HTR4_uc021yfh.1_Nonsense_Mutation_p.Y213*|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Nonsense_Mutation_p.Y213*|HTR4_uc011dby.1_Nonsense_Mutation_p.Y213*|HTR4_uc003lpn.3_Nonsense_Mutation_p.Y213*|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Nonsense_Mutation_p.Y213*	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	213					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATAGATGCGGTAATAGGCCA	0.542000														38			23		2.89027e-11	3.02575e-11	1	1	0
FLT3	2322	broad.mit.edu	37	13	28611413	28611413	+	Silent	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	uc001urw.3	-	9	1300	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.F406F	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	406					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378000			"""Mis, O"""		"""AML, ALL"""									75			9		0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927189	23927189	+	Missense_Mutation	SNP	T	C	C	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	uc002nrk.4	-	3	1305	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_uc002nrl.4_Missense_Mutation_p.H319R|ZNF681_uc002nrj.4_Missense_Mutation_p.H319R	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398000														56			30		0	0	1	0	0
DDIT3	1649	broad.mit.edu	37	12	57911132	57911132	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	uc009zpt.3	-	2	395	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.A20T|DDIT3_uc021qzj.1_Missense_Mutation_p.A20T|DDIT3_uc021qzk.1_Missense_Mutation_p.A43T|DDIT3_uc021qzl.1_Missense_Mutation_p.A43T|DDIT3_uc009zps.3_Missense_Mutation_p.A43T	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	20					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493000			T	FUS	liposarcoma									39			22		0	0	1	0	0
ADK	132	broad.mit.edu	37	10	76360239	76360239	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	uc001jwi.3	+	8	959	c.865A>G	c.(865-867)Ata>Gta	p.I289V	ADK_uc010qlb.2_Missense_Mutation_p.I232V|ADK_uc001jwj.3_Missense_Mutation_p.I272V|ADK_uc010qlc.2_Missense_Mutation_p.I254V	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	289				I -> N (in Ref. 1; AA sequence).	purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348000														33			7		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96324505	96324505	+	Silent	SNP	T	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	uc004atw.3	+	16	2989	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_uc004aty.3_Silent_p.V769V|FAM120A_uc004atz.3_Silent_p.V636V|FAM120A_uc010mrg.3_Silent_p.V255V|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	988	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.G987*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAGAGGAGTTATTTCCACCC	0.368000														46			18		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802239	185802239	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	uc002uph.3	+	3	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	706						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAATCAAATGCAACAATGAT	0.308000														98			4		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14157294	14157294	+	Silent	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	uc002mxx.3	+	7	1428	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	335	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627000														203			14		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362274	72362274	+	Splice_Site	SNP	C	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	uc002sih.1	-	3	705	c.705_splice	c.e3+1	p.R235_splice	CYP26B1_uc010yra.1_Splice_Site_p.R218_splice|CYP26B1_uc010yrb.1_Splice_Site_p.R160_splice	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	235					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637000														55			4		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	A	A	rs28526603	by1000genomes	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:16974745G>A	uc010och.2	+	6		c.1205G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGGAACCGGAGGGCCGGGG	0.711000														30			4		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835570	247835570	+	Silent	SNP	G	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	uc001idi.1	-	0	774	c.774C>A	c.(772-774)cgC>cgA	p.R258R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463000														145			26		1.75199e-13	1.86322e-13	1	1	0
TAPBPL	55080	broad.mit.edu	37	12	6567822	6567822	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	uc001qog.4	+	4	1154	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	306	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522000														145			11		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14634097	14634097	+	Silent	SNP	T	C	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	uc001rbw.3	+	12	3416	c.3258T>C	c.(3256-3258)gtT>gtC	p.V1086V	ATF7IP_uc001rbv.1_Silent_p.V1085V|ATF7IP_uc001rbx.3_Silent_p.V1085V|ATF7IP_uc001rby.4_Silent_p.V1086V|ATF7IP_uc001rca.3_Silent_p.V1086V	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1086					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453000														132			7		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95326548	95326548	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:95326548G>T	uc010qnt.2	+	0	127	c.71G>T	c.(70-72)cGc>cTc	p.R24L	O3FAR1_uc010qnu.2_Missense_Mutation_p.R24L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	24					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						AACCGCACCCGCTTTCCCTTC	0.701000														33			6		3.59834e-05	3.59834e-05	1	1	0
KTI12	112970	broad.mit.edu	37	1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	-	-	rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	uc001ctj.1	-	0	608_614	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.P190fs	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	190							ATP binding	p.D191E(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575													---	97	---	---	11	---					
ARID4B	51742	broad.mit.edu	37	1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	-	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	uc021pks.1	-	19	3367_3373	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.I997fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.I997fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.I911fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.I911fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Del_p.I678fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444													---	84	---	---	53	---					
C14orf49	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													---	238	---	---	7	---					
