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
FLJ00322	0	broad.mit.edu	37	16	15023280	15023280	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr16:15023280T>C	uc010uzk.2	+	6	1123	c.847_splice	c.e6+2	p.G283_splice	NPIP_uc002dcx.4_Splice_Site					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGCTGGCGGGTGAGGAGATCG	0.701000														15			3		0	0	0.009096	0	0
MICB	4277	broad.mit.edu	37	6	31473399	31473399	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr6:31473399C>T	uc003ntn.4	+	1	192	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	MICB_uc011dnm.2_5'UTR|MICB_uc021yuq.1_5'UTR|MICB_uc003nto.4_Missense_Mutation_p.H26Y	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	26					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CCCAGAGCCCCACAGTCTTCG	0.522000														77			3		0	0	0.004672	0	0
OR10AD1	121275	broad.mit.edu	37	12	48596939	48596939	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr12:48596939A>G	uc001rrl.1	-	0	137	c.137T>C	c.(136-138)aTc>aCc	p.I46T		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AD, member 1 (OR10AD1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GGTGATAAAGATGATGAGGCC	0.542000														42			5		0	0	0.014758	0	0
KIAA0090	23065	broad.mit.edu	37	1	19545821	19545821	+	Silent	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr1:19545821C>T	uc001bbo.3	-	22	3001	c.2958G>A	c.(2956-2958)aaG>aaA	p.K986K	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Silent_p.K985K|KIAA0090_uc001bbq.3_Silent_p.K985K|KIAA0090_uc001bbr.3_Silent_p.K964K	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	986	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GATTCAGGAGCTTCACCTGTG	0.502000														55			4		0	0	0.009096	0	0
THSD7B	80731	broad.mit.edu	37	2	137852688	137852688	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr2:137852688C>T	uc002tva.1	+	2	1103	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.P258L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGCAATGTCCCAGGTATTAC	0.418000														55			5		0	0	0.029380	0	0
PRDM10	56980	broad.mit.edu	37	11	129814751	129814751	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr11:129814751C>T	uc001qfm.3	-	5	909	c.677G>A	c.(676-678)cGc>cAc	p.R226H	PRDM10_uc001qfj.3_Missense_Mutation_p.R140H|PRDM10_uc001qfk.3_Missense_Mutation_p.R140H|PRDM10_uc001qfl.3_Missense_Mutation_p.R140H|PRDM10_uc010sbx.2_Missense_Mutation_p.R140H|PRDM10_uc001qfn.3_Missense_Mutation_p.R226H|PRDM10_uc009zct.1_Missense_Mutation_p.R258H	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTGGGGATGCGCCGCTTGGA	0.627000														97			4		0	0	0.009096	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47632919	47632919	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr20:47632919G>A	uc002xtx.4	+	30	4434	c.4282G>A	c.(4282-4284)Gta>Ata	p.V1428I	ARFGEF2_uc010zyf.2_Missense_Mutation_p.V721I	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1428					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTTTCTGATGTATTTGCACA	0.353000														84			36		0	0	0.092188	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763422	92763422	+	Silent	SNP	G	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr7:92763422G>A	uc003umh.1	-	4	3079	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	SAMD9L_uc003umj.1_Silent_p.I621I|SAMD9L_uc003umi.1_Silent_p.I621I|SAMD9L_uc010lfb.1_Silent_p.I621I|SAMD9L_uc003umk.1_Silent_p.I621I|SAMD9L_uc010lfc.1_Silent_p.I621I|SAMD9L_uc010lfd.1_Silent_p.I621I|SAMD9L_uc022ahh.1_Silent_p.I621I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	621										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAGTTTAAGGATAGTGCTGT	0.383000														258			8		0	0	0.058154	0	0
AP2A2	161	broad.mit.edu	37	11	984672	984672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr11:984672C>T	uc001lst.2	+	6	946	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Nonsense_Mutation_p.Q245*	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	245					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGATCTCCAGGATTACAC	0.582000														201			17		0	0	0.043863	0	0
CFTR	1080	broad.mit.edu	37	7	117235098	117235098	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr7:117235098A>G	uc003vjd.3	+	14	2737	c.2605A>G	c.(2605-2607)Att>Gtt	p.I869V	CFTR_uc011knq.2_Missense_Mutation_p.I275V	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	869	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGCTTAGTAATTTTTCTGGC	0.333000									Cystic Fibrosis					106			3		0	0	0.009096	0	0
RBBP8	5932	broad.mit.edu	37	18	20573491	20573491	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr18:20573491C>G	uc002kua.3	+	10	1824	c.1701C>G	c.(1699-1701)tgC>tgG	p.C567W	RBBP8_uc002ktw.3_Missense_Mutation_p.C567W|RBBP8_uc002kty.3_Missense_Mutation_p.C567W|RBBP8_uc002ktz.3_Missense_Mutation_p.C567W|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Missense_Mutation_p.C567W	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	567					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TGAATAAATGCTCTCCAGACA	0.438000								Homologous recombination						72			4		0	0	0.014758	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229899	140229899	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr5:140229899C>T	uc003lhu.2	+	0	2543	c.1819C>T	c.(1819-1821)Ctt>Ttt	p.L607F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.L607F	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGTGGCTTTCATACGA	0.672000														81			8		0	0	0.038147	0	0
MSH4	4438	broad.mit.edu	37	1	76282197	76282197	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr1:76282197A>C	uc001dhd.2	+	5	1070	c.955A>C	c.(955-957)Aac>Cac	p.N319H		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	319					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						ATCAGCCCAAAACCTTGAATT	0.284000								Mismatch excision repair (MMR)						60			3		0	0	0.004672	0	0
STON2	85439	broad.mit.edu	37	14	81862455	81862455	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr14:81862455C>G	uc010tvu.2	-	1	354	c.156G>C	c.(154-156)gaG>gaC	p.E52D	STON2_uc001xvk.1_Missense_Mutation_p.E52D|STON2_uc010atc.1_Missense_Mutation_p.E52D	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	52					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCACATGGTTCTCCCCGGAGG	0.577000														66			7		0	0	0.029380	0	0
DCPS	28960	broad.mit.edu	37	11	126201299	126201299	+	Splice_Site	SNP	G	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr11:126201299G>T	uc001qdp.3	+	3	706	c.377_splice	c.e3-1	p.D126_splice		NM_014026	NP_054745	Q96C86	DCPS_HUMAN	Homo sapiens decapping enzyme, scavenger (DCPS), mRNA.	126					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		TATCATTGCAGATGTAAAGAC	0.567000														155			10		0.000673444	0.000713851	0.069234	1	0
KIAA1109	84162	broad.mit.edu	37	4	123264653	123264653	+	Silent	SNP	C	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr4:123264653C>G	uc003ieh.3	+	70	12486	c.12441C>G	c.(12439-12441)ggC>ggG	p.G4147G	KIAA1109_uc003iem.3_Silent_p.G503G|KIAA1109_uc003ien.3_Silent_p.G81G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4147	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTCATCTGGCTTGAGCTTCA	0.478000														77			7		0	0	0.029380	0	0
AQP10	89872	broad.mit.edu	37	1	154294468	154294468	+	Silent	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr1:154294468C>T	uc001feu.3	+	1	205	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	55					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGCAACTTCTTCACCATGT	0.577000														34			3		0	0	0.004672	0	0
AURKB	9212	broad.mit.edu	37	17	8108544	8108544	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr17:8108544C>T	uc002gkn.3	-	7	915	c.854G>A	c.(853-855)cGc>cAc	p.R285H	AURKB_uc021tpy.1_Missense_Mutation_p.R252H|AURKB_uc010cnu.3_Missense_Mutation_p.R104H|AURKB_uc002gkm.3_Missense_Mutation_p.R284H|AURKB_uc010vuu.2_Missense_Mutation_p.R243H|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	284	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						CTTGACGATGCGGCGATAGGT	0.592000														25			3		0	0	0.004672	0	0
MMP11	4320	broad.mit.edu	37	22	24123480	24123480	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr22:24123480G>A	uc002zxx.3	+	5	981	c.959G>A	c.(958-960)cGt>cAt	p.R320H	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	320	Hemopexin-like 1.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TGGCGCCTCCGTGGGGGCCAG	0.672000														47			16		0	0	0.038395	0	0
TDRD1	56165	broad.mit.edu	37	10	115978231	115978231	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr10:115978231A>T	uc001lbg.1	+	17	2535	c.2382A>T	c.(2380-2382)aaA>aaT	p.K794N	TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.K785N|TDRD1_uc001lbi.1_Missense_Mutation_p.K785N|TDRD1_uc010qsc.2_Missense_Mutation_p.K398N|TDRD1_uc001lbj.3_Missense_Mutation_p.K503N	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	794	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GACATGTTAAAGTACATTTTG	0.373000														156			13		0	0	0.093190	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	A	A	rs4041777		TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000														23			16		1.5739e-10	1.73784e-10	0.028581	1	0
ZFP30	22835	broad.mit.edu	37	19	38126264	38126264	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr19:38126264C>T	uc002ogv.1	-	5	1694	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	ZFP30_uc002ogw.1_Missense_Mutation_p.R393H|ZFP30_uc002ogx.1_Missense_Mutation_p.R393H|ZFP30_uc010xtt.1_Missense_Mutation_p.R392H	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGAGTAACGACGAAAGAA	0.408000														95			5		0	0	0.014758	0	0
WASH6P	653440	broad.mit.edu	37	X	155254997	155254997	+	Silent	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chrX:155254997A>G	uc022cip.1	+	6	957	c.753A>G	c.(751-753)caA>caG	p.Q251Q						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;																		CCCCACCGCAACAGCCACAGG	0.647000														9			2		0	0	0.029380	0	0
SDHAP3	728609	broad.mit.edu	37	5	1574406	1574406	+	RNA	SNP	T	C	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr5:1574406T>C	uc011cmd.1	-	2		c.440A>G			SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTCATCAATCTGCACCTGAGG	0.478000														11			3		0	0	0.004672	0	0
MAST4	375449	broad.mit.edu	37	5	66432487	66432487	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr5:66432487G>A	uc021xzk.1	+	18	2797	c.2489G>A	c.(2488-2490)gGa>gAa	p.G830E	MAST4_uc003jut.2_Missense_Mutation_p.G641E|MAST4_uc003juu.1_Missense_Mutation_p.G651E|MAST4_uc011cra.1_Missense_Mutation_p.G624E|MAST4_uc003juv.2_Missense_Mutation_p.G636E|MAST4_uc003juw.3_Missense_Mutation_p.G636E	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	833	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GAGAGGCTGGGAACAGGTTAG	0.453000														12			3		0	0	0.004672	0	0
MMP21	118856	broad.mit.edu	37	10	127459092	127459092	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr10:127459092C>T	uc001liu.3	-	4	1048	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	350	Hemopexin-like 1.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CTCACCATCACCTCTCCATAT	0.413000														116			7		0	0	0.038147	0	0
ENTPD3	956	broad.mit.edu	37	3	40465427	40465427	+	Silent	SNP	T	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr3:40465427T>A	uc003ckd.4	+	9	1418	c.1326T>A	c.(1324-1326)acT>acA	p.T442T	ENTPD3_uc010hhy.3_Silent_p.T442T|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	442						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CAGAGGAGACTTGGCCCCAAA	0.408000														150			6		0	0	0.029380	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450663	110450663	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr11:110450663C>T	uc001pkz.1	-	15	3292	c.3007G>A	c.(3007-3009)Ggt>Agt	p.G1003S	ARHGAP20_uc001pky.1_Missense_Mutation_p.G980S|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G967S|ARHGAP20_uc001pla.1_Missense_Mutation_p.G967S|ARHGAP20_uc001plb.2_Missense_Mutation_p.G546S	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	1003					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G1003S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GATGAGGGACCGGGCATTCCG	0.507000														94			4		0	0	0.009096	0	0
SMPD4	55627	broad.mit.edu	37	2	130931124	130931124	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr2:130931124C>T	uc002tqq.2	-	3	1498	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	SMPD4_uc002tqp.2_5'Flank|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Intron|SMPD4_uc002tqr.2_Missense_Mutation_p.V117M|SMPD4_uc010zaa.2_Missense_Mutation_p.C29Y|SMPD4_uc010zab.2_Intron|SMPD4_uc002tqt.2_5'UTR|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	78					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGTACTCCACAGGATTCACG	0.542000														32			7		0	0	0.029380	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	G	G	rs115565146	by1000genomes	TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr6:32725596C>G	uc003obz.2	-	3	794	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562000														28			4		0	0	0.029380	0	0
KIF3C	3797	broad.mit.edu	37	2	26203576	26203576	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr2:26203576G>A	uc002rgu.2	-	0	1868	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.P404L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	404					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCTCCGGGGCCGCTTCCC	0.652000														97			4		0	0	0.014758	0	0
LOC729264	729264	broad.mit.edu	37	16	32265013	32265013	+	Silent	SNP	T	C	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr16:32265013T>C	uc021tgy.1	+	0	364	c.339T>C	c.(337-339)acT>acC	p.T113T	LOC729264_uc002ecy.3_Non-coding_Transcript	NM_001243722	NP_001230651	Q9ULZ0	T53G3_HUMAN	Homo sapiens TP53-target gene 3 protein-like (LOC729264), mRNA.	113						cytoplasm|nucleus											GGCCTCTCACTGCCTCCGCGG	0.587000														82			7		0	0	0.029380	0	0
MFAP1	4236	broad.mit.edu	37	15	44109600	44109600	+	Silent	SNP	T	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr15:44109600T>G	uc001zth.1	-	1	310	c.126A>C	c.(124-126)ggA>ggC	p.G42G		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	42						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCCTTTTTCCGGACACAT	0.433000														172			10		0	0	0.080935	0	0
TMEM2	23670	broad.mit.edu	37	9	74300679	74300679	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr9:74300679G>C	uc011lsa.1	-	22	4475	c.3935C>G	c.(3934-3936)cCa>cGa	p.P1312R	TMEM2_uc011lrz.1_Missense_Mutation_p.P305R|TMEM2_uc010mos.2_Missense_Mutation_p.P1249R|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.P146R	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1312						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AAGATGAGCTGGTTTGGCTAA	0.373000														78			7		0	0	0.038147	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									35			3		0	0	0.004672	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														20			4		0	0	0.014758	0	0
LTF	4057	broad.mit.edu	37	3	46492033	46492033	+	Silent	SNP	A	G	G			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr3:46492033A>G	uc003cpq.3	-	6	1075	c.834T>C	c.(832-834)agT>agC	p.S278S	LTF_uc003fzr.3_Silent_p.S234S|LTF_uc010hjh.3_Silent_p.S278S|LTF_uc003cpr.3_Silent_p.S265S	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	278	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGCCATTCACACTTCGTGCCA	0.567000														68			5		0	0	0.014758	0	0
MST1P2	11209	broad.mit.edu	37	1	16974751	16974751	+	RNA	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr1:16974751C>T	uc010och.2	+	6		c.1211C>T			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.																		ACCGGAGGGCCGGGGCGGGGT	0.716000														23			7		0	0	0.038147	0	0
abParts	0	broad.mit.edu	37	14	106691922	106691922	+	RNA	SNP	C	T	T			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr14:106691922C>T	uc021ser.1	-	1156		c.25071G>A								Parts of antibodies, mostly variable regions.																		TCAGGGACCCCCCAGGCTTGA	0.587000														131			4		0	0	0.009096	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				20			11		0	0	0.093190	0	0
ADCY8	114	broad.mit.edu	37	8	131916171	131916174	+	Frame_Shift_Del	DEL	TAAG	-	-			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr8:131916171_131916174delTAAG	uc003ytd.4	-	6	2011_2014	c.1755_1758delCTTA	c.(1753-1758)tacttafs	p.Y585fs	ADCY8_uc010mds.3_Frame_Shift_Del_p.Y585fs	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	585					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.T584T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGCTTAATTAAGTAAGTTTCGA	0.490										HNSCC(32;0.087)			---	199	---	---	22	---					
CERS3	204219	broad.mit.edu	37	15	101013174	101013174	+	Frame_Shift_Del	DEL	C	-	-			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr15:101013174delC	uc002bwa.3	-	10	1297	c.726delG	c.(724-726)gggfs	p.G242fs	CERS3_uc002bvz.3_Frame_Shift_Del_p.G231fs|CERS3_uc002bwb.3_Frame_Shift_Del_p.G231fs	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	231	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCACGAGGGTCCCACTGCGAA	0.433													---	124	---	---	17	---					
XBP1	7494	broad.mit.edu	37	22	29196498	29196499	+	In_Frame_Ins	INS	-	GCC	GCC			TCGA-BQ-5883-01A-11D-1589-08	TCGA-BQ-5883-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c69acfc-a1cb-443f-b402-13ee50da93b7	517cb40d-9cef-49ff-a7ce-5b9c539c2b09	g.chr22:29196498_29196499insGCC	uc021wnp.1	-	0	62_63	c.14_15insGGC	c.(13-15)gca>gcGGCa	p.5_5A>AA		NM_001079539	NP_001073007	P17861	XBP1_HUMAN	Homo sapiens X-box binding protein 1 (XBP1), transcript variant 2, mRNA.	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													---	4	---	---	3	---					
