Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
IMPDH2	3615	broad.mit.edu	37	3	49062646	49062646	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:49062646G>A	uc003cvt.3	-	9	1155	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	355					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	p.R355R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAAAGCGCCGTGCATACTCT	0.557000													30	264					0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37225722	37225722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:37225722G>A	uc003onn.3	+	0	175	c.29G>A	c.(28-30)tGg>tAg	p.W10*	TMEM217_uc003onl.3_5'Flank|TMEM217_uc010jwr.3_5'Flank|TMEM217_uc010jws.3_5'Flank|TMEM217_uc003onm.4_5'UTR|TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	10						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGCAGTTTTGGAAGAGGAGC	0.622000													9	39					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19246838	19246838	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:19246838T>A	uc001mpm.3	-	11	2873	c.2351A>T	c.(2350-2352)aAc>aTc	p.N784I	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.N784I	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	784					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGTCATAGTTGGTGGCCCT	0.498000													17	129					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111671550	111671550	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:111671550C>T	uc010hqa.3	+	10	3174	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	PHLDB2_uc003dyc.3_Silent_p.I905I|PHLDB2_uc003dyd.3_Silent_p.I878I|PHLDB2_uc003dyg.3_Silent_p.I921I|PHLDB2_uc003dyh.3_Silent_p.I878I|PHLDB2_uc003dyi.3_Intron	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	921						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.M921L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGAGAAGCATCACCCCAAAGG	0.453000													16	59					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086968	100086968	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:100086968G>T	uc003uvd.1	+	3	1783	c.1624G>T	c.(1624-1626)Gta>Tta	p.V542L	NYAP1_uc003uve.1_Missense_Mutation_p.V324L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	542																	GGACCCAACTGTAGGCCCCCT	0.687000													12	13					0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118068757	118068757	+	Missense_Mutation	SNP	C	C	G	rs139352792		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr11:118068757C>G	uc001psk.2	-	7	1135	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	AMICA1_uc001psg.2_Missense_Mutation_p.E131Q|AMICA1_uc001psh.2_Missense_Mutation_p.E282Q|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.E311Q|AMICA1_uc010rxw.1_Missense_Mutation_p.E282Q|AMICA1_uc010rxx.1_Missense_Mutation_p.E321Q|AMICA1_uc001psl.1_Missense_Mutation_p.E277Q	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	321					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTTTATCTCTGGATTAGTC	0.438000											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	105					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12577553	12577553	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:12577553T>C	uc002mtv.4	-	1	276	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF709_uc002mtw.4_Missense_Mutation_p.N7D|ZNF709_uc002mtx.4_Missense_Mutation_p.N39D	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GAGGCCAAGTTAACAAAGGTT	0.428000													5	45					0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153784245	153784245	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:153784245G>A	uc001fdb.4	-	9	1854	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	537						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGACAACTGGGGTGCCTGTGC	0.517000													3	107					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127548295	127548295	+	Silent	SNP	A	A	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr10:127548295A>G	uc001ljf.1	-	2	1217	c.726T>C	c.(724-726)ccT>ccC	p.P242P	DHX32_uc001ljg.1_Silent_p.P242P|DHX32_uc009yam.1_Silent_p.P78P	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	242						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAACCTCCACAGGGTGTTTAT	0.403000													18	91					0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72718830	72718830	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72718830G>A	uc011kev.2	-	5	746	c.669C>T	c.(667-669)gaC>gaT	p.D223D	FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.3_Silent_p.D223D|NSUN5_uc003txw.3_Silent_p.D223D|NSUN5_uc003txx.3_Silent_p.D185D	NM_001168347	NP_001161819	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 3, mRNA.	223							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTGGCGGGGGGTCCAGCAGCA	0.617000													3	52					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20859812	20859812	+	Silent	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:20859812G>C	uc001vxe.3	-	12	2083	c.2043C>G	c.(2041-2043)gtC>gtG	p.V681V	TEP1_uc010ahk.3_Silent_p.V31V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.V573V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	681					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGTCAGATAGACCAAGACAG	0.532000													22	184					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14293176	14293176	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr5:14293176T>C	uc003jff.3	+	5	1115	c.1109T>C	c.(1108-1110)aTt>aCt	p.I370T	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I321T|TRIO_uc003jfh.1_Missense_Mutation_p.I19T	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	370					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TACACAGAGATTGGGACCAGC	0.493000													26	64					0	0	1	0	0
FLJ38723	0	broad.mit.edu	37	15	62536859	62536859	+	Splice_Site	SNP	T	T	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr15:62536859T>G	uc002ain.1	-	6		c.1593_splice	c.e6+1		DQ573567_uc002ajb.3_Non-coding_Transcript|DQ570912_uc002ajc.3_5'Flank|DQ593779_uc002ajd.3_5'Flank|DQ592649_uc002aje.2_5'Flank|DQ570033_uc002ajf.3_5'Flank|DQ596703_uc010uhn.1_5'Flank|DQ596118_uc002ajg.1_5'Flank|DQ601697_uc021soc.1_5'Flank|DQ593269_uc002aji.3_5'Flank|DQ597549_uc010uho.2_5'Flank|DQ577988_uc002ajk.3_5'Flank|DQ592221_uc002ajl.3_5'Flank|DQ586284_uc002ajm.2_5'Flank|DQ576429_uc002ajn.2_5'Flank|DQ586285_uc002ajo.3_5'Flank|DQ570129_uc021sod.1_5'Flank|DQ590273_uc002ajq.3_5'Flank|DQ574151_uc002ajr.2_5'Flank|DQ584931_uc021soe.1_5'Flank|DQ575559_uc010uhp.1_5'Flank|DQ572791_uc002ajt.3_5'Flank|DQ583624_uc021sof.1_5'Flank|DQ596164_uc021sog.1_5'Flank|DQ590682_uc002ajw.3_5'Flank					Homo sapiens cDNA FLJ38723 fis, clone KIDNE2010137, weakly similar to GOLGIN-95.																		GAGACTCAACTGGGCCTGTAG	0.582000													3	10					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188128	70188128	+	Silent	SNP	G	G	A	rs143824935		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:70188128G>A	uc002sfz.4	-	0	1270	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	231	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGTCCAGATCGCCATCAGTGA	0.567000													6	88					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657592	72657592	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:72657592C>T	uc003txs.1	-	12	2320	c.1392G>A	c.(1390-1392)ccG>ccA	p.P464P	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		tcgtggagaacggggagctga	0.498000													26	74					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90368423	90368423	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:90368423G>A	uc003pnn.1	-	88	15043	c.14927C>T	c.(14926-14928)tCt>tTt	p.S4976F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4976					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTGCTCCTCAGAGTGTTCTTC	0.532000													12	147					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29196274	29196274	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:29196274G>A	uc002hfs.1	+	12	3665	c.3322G>A	c.(3322-3324)Ggt>Agt	p.G1108S	ATAD5_uc002hft.1_Missense_Mutation_p.G1005S	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1108					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTCTCGGGTGGCATAGA	0.393000													8	49					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149344	50149344	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:50149344G>C	uc021vhg.1	-	22	5303	c.4382C>G	c.(4381-4383)gCa>gGa	p.A1461G	NRXN1_uc010fbp.3_Missense_Mutation_p.A356G|NRXN1_uc002rxb.4_Missense_Mutation_p.A1090G|NRXN1_uc021vhh.1_Missense_Mutation_p.A1391G|NRXN1_uc021vhi.1_Missense_Mutation_p.A1457G|NRXN1_uc021vhj.1_Missense_Mutation_p.A1387G|NRXN1_uc002rxa.4_Missense_Mutation_p.A53G|NRXN1_uc010yon.2_Missense_Mutation_p.A56G	NM_001135659	NP_001129131	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.	1391					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GATCACTTCTGCTGAGCCTGG	0.532000													21	40					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27570874	27570874	+	Silent	SNP	C	C	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:27570874C>A	uc003szf.3	-	6	1002	c.789G>T	c.(787-789)gtG>gtT	p.V263V	HIBADH_uc003szg.3_Silent_p.V214V	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	263					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	CGCCATCCATCACTCCAGGTA	0.443000													6	71					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549628	102549628	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:102549628C>T	uc001ykv.4	-	9	2209	c.1864G>A	c.(1864-1866)Gac>Aac	p.D622N	HSP90AA1_uc001yku.4_Missense_Mutation_p.D500N|HSP90AA1_uc001ykw.1_Missense_Mutation_p.D321N|HSP90AA1_uc001ykx.1_Missense_Mutation_p.D489N	NM_001017963	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 1, mRNA.	500					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCTACCTGGTCCTTGGTCTCA	0.418000													6	77					0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1943643	1943643	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr17:1943643G>A	uc010vqs.2	+	6	932	c.926G>A	c.(925-927)cGc>cAc	p.R309H	DPH1_uc002fts.3_Missense_Mutation_p.R299H|DPH1_uc002ftt.3_Missense_Mutation_p.R283H|DPH1_uc010cjx.3_Missense_Mutation_p.R159H|DPH1_uc002ftv.3_Missense_Mutation_p.R55H|DPH1_uc002ftw.3_Missense_Mutation_p.R27H|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	299					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTTTGGGCCGCCAGGGCAGT	0.602000													14	61					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112949	136112949	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chrX:136112949C>G	uc011mwh.2	-	0	885	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	295						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTACACTACTCTCACTGGTCC	0.617000													30	262					0	0	1	0	0
VAMP3	9341	broad.mit.edu	37	1	7837370	7837370	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:7837370A>T	uc001aol.3	+	2	338	c.223A>T	c.(223-225)Aat>Tat	p.N75Y		NM_004781	NP_004772	Q15836	VAMP3_HUMAN	Homo sapiens vesicle-associated membrane protein 3 (cellubrevin) (VAMP3), mRNA.	75					cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TTGGTGGAAGAATTGCAAGGT	0.448000													3	21					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992869	124992869	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr8:124992869G>T	uc003yqw.3	+	10	1434	c.1228G>T	c.(1228-1230)Gca>Tca	p.A410S		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	410						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCAGGACGGGCACAGGAATC	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	107					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029655	219029655	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:219029655T>C	uc002vhc.3	-	1	399	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	CXCR1_uc021vwq.1_Missense_Mutation_p.I94V	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	94					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GCGGCCCAGATGGGCAAGGTC	0.557000													41	87					0	0	1	0	0
LYAR	55646	broad.mit.edu	37	4	4276212	4276212	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr4:4276212G>A	uc011bvy.2	-	6	857	c.714C>T	c.(712-714)gtC>gtT	p.V238V	LYAR_uc011bvx.2_Silent_p.V121V|LYAR_uc003ght.3_Silent_p.V238V	NM_001145725	NP_060286	Q9NX58	LYAR_HUMAN	Homo sapiens Ly1 antibody reactive homolog (mouse) (LYAR), transcript variant 2, mRNA.	238	Lys-rich.					nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCTCAGGGACTTCCTCCC	0.547000													114	133					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42610592	42610592	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr22:42610592G>A	uc003bcj.1	-	0	854	c.720C>T	c.(718-720)tcC>tcT	p.S240S	TCF20_uc003bck.1_Silent_p.S240S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	240	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						aggaggaggaggaAGCAGAAG	0.512000													3	75					0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33744785	33744785	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33744785T>C	uc011drm.2	-	7	1320	c.1307A>G	c.(1306-1308)tAt>tGt	p.Y436C	LEMD2_uc010jvg.3_Missense_Mutation_p.Y145C|LEMD2_uc011drl.2_Missense_Mutation_p.Y134C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	436						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TACATATGGATAGCGCTCCAT	0.622000													12	69					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141287	33141287	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr6:33141287C>G	uc003ocx.1	-	35	2902	c.2674G>C	c.(2674-2676)Gga>Cga	p.G892R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G806R|COL11A2_uc003ocz.1_Missense_Mutation_p.G785R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	892	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCGGGGGTCCTTTCGGTCCA	0.612000													11	103					0	0	1	0	0
STAC3	246329	broad.mit.edu	37	12	57640655	57640655	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr12:57640655C>T	uc001snp.2	-	5	737	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Missense_Mutation_p.E140K|STAC3_uc010srm.1_5'UTR	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	179					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGCAGGGTTTCAAACACAGGA	0.507000													12	230					0	0	1	0	0
ETV5	2119	broad.mit.edu	37	3	185766571	185766571	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr3:185766571G>A	uc003fpy.3	-	12	1581	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	ETV5_uc003fpz.3_Missense_Mutation_p.R464C	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	464					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGGAACGGACGCTGGTTATCC	0.577000			T	"""TMPRSS2, SCL45A3"""	Prostate								28	31					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36118962	36118962	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr9:36118962C>G	uc003zyv.3	+	17	2548	c.2462C>G	c.(2461-2463)cCg>cGg	p.P821R	RECK_uc003zyw.3_Missense_Mutation_p.P693R|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	821						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATCATCCCACCGGGTAGGCTG	0.557000													7	148					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	837116	837116	+	Missense_Mutation	SNP	C	C	T	rs2272898	byFrequency	TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr16:837116C>T	uc002cka.3	-	2	604	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RPUSD1_uc002ckb.3_Missense_Mutation_p.E124K|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	124			E -> Q (in dbSNP:rs2272898).		pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCCCGGCCCTCCGTGCTGTTC	0.692000													4	55					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	44					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45656993	45656993	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr14:45656993T>C	uc001wwd.4	+	18	4781	c.4682T>C	c.(4681-4683)aTg>aCg	p.M1561T	FANCM_uc010anf.3_Missense_Mutation_p.M1535T|FANCM_uc001wwe.4_Missense_Mutation_p.M1097T|FANCM_uc010ang.3_Missense_Mutation_p.M775T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1561					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTCTGAAATGAGAGCTATT	0.254000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	8					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209825	100209825	+	Silent	SNP	G	G	C	rs143928698		TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr2:100209825G>C	uc002taf.3	-	13	2517	c.2373C>G	c.(2371-2373)ctC>ctG	p.L791L	AFF3_uc002tag.3_Silent_p.L766L|AFF3_uc010fiq.1_Silent_p.L766L|AFF3_uc010yvr.1_Silent_p.L919L|AFF3_uc002tah.1_Silent_p.L791L	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	766					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTTTGACCCAGAGAGACCTGA	0.582000													3	67					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2827692	2827692	+	Silent	SNP	C	C	T			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:2827692C>T	uc002lwm.2	+	2	402	c.204C>T	c.(202-204)aaC>aaT	p.N68N	ZNF554_uc002lwl.2_Silent_p.N17N	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGAAGAACCTGTACAGAG	0.483000													14	50					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003691	14003691	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr19:14003691T>C	uc002mxl.1	-	4	360	c.301A>G	c.(301-303)Agg>Ggg	p.R101G	C19orf57_uc002mxk.1_5'UTR	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	101					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGAACAAACCTCCCGAATGAG	0.458000													23	29					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160105253	160105253	+	Silent	SNP	G	G	A			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr1:160105253G>A	uc001fvc.3	+	15	2277	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_uc001fvb.2_Silent_p.G715G|ATP1A2_uc001fvd.3_Silent_p.G451G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602000													5	116					0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62198499	62198499	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MX-01A-11D-A21A-08	TCGA-EL-A3MX-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f2442442-d6ab-45c6-8fb7-783736a7d048	9e7e34b0-dab7-4517-b500-18ced11ea4c4	g.chr20:62198499delC	uc002yfm.2	-	6	3104	c.2212delG	c.(2212-2214)gtcfs	p.V738fs	PRIC285_uc002yfl.1_Frame_Shift_Del_p.V169fs	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	738					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCGTGGAAGACCAGGCGGCTC	0.667													38	68	---	---	---	---