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
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr1:158592861G>A	uc001fst.1	-	42	6231	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2011					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011V(12)|p.A2011A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483												
C1orf112	55732	broad.mit.edu	37	1	169772375	169772375	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr1:169772375C>T	uc001ggq.3	+	4	937	c.237C>T	c.(235-237)tcC>tcT	p.S79S	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Silent_p.S79S|C1orf112_uc001ggp.3_Silent_p.S79S|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.S50S|C1orf112_uc009wvu.1_Silent_p.S50S|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Silent_p.S21S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	79										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGGAATCCATCATTTTGG	0.378												
DLG5	9231	broad.mit.edu	37	10	79566617	79566617	+	Silent	SNP	C	C	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr10:79566617C>A	uc001jzk.3	-	25	4936	c.4866G>T	c.(4864-4866)gtG>gtT	p.V1622V	DLG5_uc001jzi.3_Silent_p.V377V|DLG5_uc001jzj.3_Silent_p.V1037V|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1622	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGTGTCATCCACGTAGAGGA	0.572												
OR8H2	390151	broad.mit.edu	37	11	55873242	55873242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:55873242G>A	uc010riy.2	+	0	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V242I(2)|p.C241*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTACTTGCGTCTCTCATCT	0.383										HNSCC(53;0.14)		
GLYATL2	219970	broad.mit.edu	37	11	58602091	58602091	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:58602091G>A	uc001nnd.4	-	5	827	c.696C>T	c.(694-696)taC>taT	p.Y232Y	GLYATL2_uc009ymq.3_Silent_p.Y232Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	232						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTTGGTGTCTGTATTTGGGGA	0.413												
CTTN	2017	broad.mit.edu	37	11	70279266	70279266	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:70279266G>A	uc001opv.4	+	15	1532	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	CTTN_uc001opu.3_Silent_p.P405P|CTTN_uc001opw.4_Silent_p.P405P|CTTN_uc010rqm.2_Silent_p.P126P|CTTN_uc001opx.3_Silent_p.P126P	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	442						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGACGGAGCCGGAGCCCGTGT	0.652												
DYNC2H1	79659	broad.mit.edu	37	11	103014114	103014114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:103014114C>T	uc001phn.1	+	17	2836	c.2692C>T	c.(2692-2694)Cga>Tga	p.R898*	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.R898*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	898	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTAGAACGACTTCCAAG	0.363												
BCL2L14	79370	broad.mit.edu	37	12	12232401	12232401	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:12232401C>T	uc001rac.3	+	1	363	c.162C>T	c.(160-162)tcC>tcT	p.S54S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Silent_p.S54S|BCL2L14_uc001rae.3_Silent_p.S54S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	54					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	p.S54S(2)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GAAGTTTGTCCCAGAGGGGCC	0.488												
LIMA1	51474	broad.mit.edu	37	12	50575756	50575756	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:50575756C>T	uc001rwj.4	-	9	1379	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	LIMA1_uc001rwg.4_Missense_Mutation_p.R100H|LIMA1_uc001rwh.4_Missense_Mutation_p.R241H|LIMA1_uc001rwi.4_Missense_Mutation_p.R243H|LIMA1_uc001rwk.4_Missense_Mutation_p.R403H|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	402	LIM zinc-binding.				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGCCAAGAGACGCTCCATTGG	0.473												
DGKA	1606	broad.mit.edu	37	12	56330335	56330335	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:56330335G>A	uc001sij.3	+	1	312	c.48G>A	c.(46-48)ctG>ctA	p.L16L	DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.3_Silent_p.L16L|DGKA_uc001sil.3_Silent_p.L16L|DGKA_uc001sim.3_Silent_p.L16L|DGKA_uc001sin.3_Silent_p.L16L|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	16					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TTGCCCAGCTGCAAAAATACA	0.527												
FREM2	341640	broad.mit.edu	37	13	39266205	39266205	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr13:39266205T>G	uc001uwv.3	+	0	5033	c.4724T>G	c.(4723-4725)gTg>gGg	p.V1575G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCACCCAGGTGCCTATTCAT	0.418												
CHD8	57680	broad.mit.edu	37	14	21871325	21871325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:21871325G>A	uc001war.2	-	16	3630	c.3565C>T	c.(3565-3567)Cag>Tag	p.Q1189*	CHD8_uc001was.2_Nonsense_Mutation_p.Q910*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1189	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478												
LRFN5	145581	broad.mit.edu	37	14	42360496	42360496	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:42360496G>C	uc001wvm.3	+	3	2627	c.1429G>C	c.(1429-1431)Gct>Cct	p.A477P	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	477	Fibronectin type-III.					integral to membrane		p.L476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAATCTGGCTGCTGGAAC	0.403										HNSCC(30;0.082)		
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574												
ZNF263	10127	broad.mit.edu	37	16	3339555	3339555	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:3339555A>G	uc002cuq.3	+	5	1381	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	350					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCTCCCCCAGAGGGTGGAATG	0.617												
ADCY9	115	broad.mit.edu	37	16	4016471	4016471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:4016471C>T	uc002cvx.3	-	10	3906	c.3367G>A	c.(3367-3369)Gcg>Acg	p.A1123T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1123	Guanylate cyclase 2.				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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTGCGCGGTGTTCAGC	0.602												
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259												
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-	rs140846731		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:75690204_75690206delGAA	uc002fet.2	+	2	1041_1043	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424												
NF1	4763	broad.mit.edu	37	17	29533304	29533304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr17:29533304C>A	uc002hgg.3	+	11	1690	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	NF1_uc002hge.2_Nonsense_Mutation_p.S436*|NF1_uc002hgf.2_Nonsense_Mutation_p.S436*|NF1_uc002hgh.3_Nonsense_Mutation_p.S436*|NF1_uc010csn.2_Nonsense_Mutation_p.S296*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	436					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTCACTCGGTTGAACTT	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
CYP4F11	57834	broad.mit.edu	37	19	16034748	16034748	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:16034748G>A	uc002nbu.2	-	6	828	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	264					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAAGTCGTGCACCAGGT	0.527												
USE1	55850	broad.mit.edu	37	19	17329200	17329200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:17329200C>T	uc002nfo.2	+	6	482	c.422_splice	c.e6+1	p.T141_splice	USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Splice_Site_p.T141_splice	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	141					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582												
PSG3	5669	broad.mit.edu	37	19	43382389	43382389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:43382389C>T	uc002ovd.1	-	1	244	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.V36I|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.V36I|PSG3_uc002ova.2_Missense_Mutation_p.V36I|PSG3_uc002ouz.2_Missense_Mutation_p.V36I|PSG3_uc002ovb.3_Missense_Mutation_p.V36I	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	36	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V36V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCAATCGTGACTTGGGCAGTG	0.463												
CACNG6	59285	broad.mit.edu	37	19	54503003	54503003	+	Silent	SNP	A	A	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:54503003A>G	uc002qct.3	+	2	1112	c.522A>G	c.(520-522)ggA>ggG	p.G174G	CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	174						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TCCGAGTTGGAGCCGTCTGCT	0.587												
LY75-CD302	4065	broad.mit.edu	37	2	160755280	160755280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr2:160755280G>A	uc002ubb.4	-	1	459	c.385C>T	c.(385-387)Cat>Tat	p.H129Y	LY75-CD302_uc010fos.3_Missense_Mutation_p.H129Y|LY75-CD302_uc002ubc.4_Missense_Mutation_p.H129Y|LY75-CD302_uc010fot.2_Missense_Mutation_p.H129Y	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	129	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GCTGTGCCATGTCCATCCTTC	0.522												
SYN3	8224	broad.mit.edu	37	22	32937634	32937634	+	Silent	SNP	G	G	A	rs148217218		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr22:32937634G>A	uc003amx.3	-	6	1002	c.840C>T	c.(838-840)taC>taT	p.Y280Y	SYN3_uc003amy.3_Silent_p.Y280Y|SYN3_uc003amz.3_Silent_p.Y279Y	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	280	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGTGGTGGCGTAGGTTTTGG	0.552												
SI	6476	broad.mit.edu	37	3	164786544	164786544	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:164786544G>T	uc003fei.3	-	4	512	c.449C>A	c.(448-450)aCt>aAt	p.T150N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	150	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTGATTTTGAGTTGTGAAGAG	0.393										HNSCC(35;0.089)		
PYDC2	152138	broad.mit.edu	37	3	191179074	191179074	+	Silent	SNP	C	C	T	rs141891926	by1000genomes	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:191179074C>T	uc011bso.2	+	0	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	41	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542												
KLHL5	51088	broad.mit.edu	37	4	39116788	39116788	+	Silent	SNP	C	C	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:39116788C>G	uc003gtr.2	+	9	2332	c.2049C>G	c.(2047-2049)ccC>ccG	p.P683P	KLHL5_uc003gtp.3_Silent_p.P637P|KLHL5_uc003gtq.3_Silent_p.P496P|KLHL5_uc003gts.3_Silent_p.P683P|KLHL5_uc003gtt.3_Silent_p.P622P	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	683						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATATGATCCCAAAACAGACA	0.383												
GPRIN3	285513	broad.mit.edu	37	4	90170302	90170302	+	Silent	SNP	C	C	T	rs145721148	byFrequency	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:90170302C>T	uc003hsm.1	-	1	1479	c.960G>A	c.(958-960)gcG>gcA	p.A320A	GPRIN3_uc021xqb.1_Silent_p.A320A	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	320								p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCACCTCCGCATCTTGCC	0.537												
HEATR7B2	133558	broad.mit.edu	37	5	41048449	41048449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:41048449G>A	uc003jmj.4	-	15	2151	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P109L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	554							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGAAGCTCAGGTAAACGTGT	0.468												
KCTD16	57528	broad.mit.edu	37	5	143853547	143853547	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:143853547A>C	uc003lnm.1	+	3	1786	c.1157A>C	c.(1156-1158)aAa>aCa	p.K386T	KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	386						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAAGCTGTTAAAGAAAAGCTC	0.443												
UNC5A	90249	broad.mit.edu	37	5	176301527	176301527	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:176301527C>T	uc003mey.3	+	7	1530	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	UNC5A_uc010jkg.1_Silent_p.T406T	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	446	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTATGGGACCTTCAACTTCC	0.627												
GRM3	2913	broad.mit.edu	37	7	86469103	86469103	+	Missense_Mutation	SNP	C	C	T	rs141671463		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:86469103C>T	uc003uid.3	+	3	3372	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.T630M|GRM3_uc010leh.3_Missense_Mutation_p.T350M	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	758					synaptic transmission	integral to plasma membrane		p.T758M(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCCTTCAAAACGCGGAAGTGC	0.428												
CYP3A7	1577	broad.mit.edu	37	7	99262902	99262902	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:99262902C>G	uc003urq.3	-	6	659	c.557G>C	c.(556-558)gGc>gCc	p.G186A	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G73A|CYP3A7_uc011kiy.2_Missense_Mutation_p.G176A|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	186					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAATGATGTGCCAGTAATCAC	0.418												
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:142836647G>A	uc003wcf.1	+	3	389	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	118						extracellular region	actin binding	p.R118L(2)|p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453												
DMRT3	58524	broad.mit.edu	37	9	990484	990484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr9:990484G>A	uc003zgw.1	+	1	936	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	300					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCGAACTTCCGCAGAACCTGA	0.582												
ZBED1	9189	broad.mit.edu	37	X	2407462	2407462	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:2407462C>T	uc022brx.1	-	0	1299	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.T433T|ZBED1_uc004cqg.2_Silent_p.T433T|ZBED1_uc022brw.1_Silent_p.T433T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	433						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.T433T(2)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATGTTGAGCGTGGTGTTCA	0.597												
RAI2	10742	broad.mit.edu	37	X	17818684	17818684	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:17818684G>C	uc022btm.1	-	0	1447	c.1447C>G	c.(1447-1449)Caa>Gaa	p.Q483E	RAI2_uc004cyf.3_Missense_Mutation_p.Q483E|RAI2_uc004cyg.3_Missense_Mutation_p.Q483E|RAI2_uc011miy.2_Missense_Mutation_p.Q433E|RAI2_uc022btl.1_Missense_Mutation_p.Q483E|RAI2_uc004cyh.4_Missense_Mutation_p.Q483E|RAI2_uc010nfa.3_Missense_Mutation_p.Q483E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	483					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTTCCCCTTGGCTGTTGATG	0.468												
EIF2S3	1968	broad.mit.edu	37	X	24073154	24073154	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:24073154G>A	uc004dbc.3	+	1	90	c.69_splice	c.e1+1	p.L23_splice		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	23						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TCACCACCTTGGTGAGGTTTT	0.587											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PORCN	64840	broad.mit.edu	37	X	48368320	48368320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:48368320G>A	uc010nie.1	+	1	270	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	38	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.L37I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTGCCTCGCCTGCCGCCT	0.597												
WNK3	65267	broad.mit.edu	37	X	54276526	54276526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:54276526G>A	uc004dtc.2	-	15	3053	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	WNK3_uc004dtd.2_Nonsense_Mutation_p.R872*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	872					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATACAGAATCGCCACCGACCA	0.423												
IL1RAPL2	26280	broad.mit.edu	37	X	105011568	105011568	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:105011568C>T	uc004elz.1	+	10	2731	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	659					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAATAACACCCTGAAAGATAC	0.448