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
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:8716284_8716285delTC	uc001ape.3	-	2	882_883	c.72_73delGA	c.(70-75)gagaaafs	p.E24fs	RERE_uc001apf.3_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	24					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505												
CROCC	9696	broad.mit.edu	37	1	17266398	17266398	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:17266398G>A	uc001azt.2	+	12	1687	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	540					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACATGCGTGGGCGCTATGA	0.647												
CLIC4	25932	broad.mit.edu	37	1	25124266	25124266	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:25124266C>T	uc001bjo.2	+	1	391	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CLIC4_uc001bjp.1_Intron	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	36	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		AGGAAACTGCCCCTTTTCCCA	0.403												
BSDC1	55108	broad.mit.edu	37	1	32843632	32843632	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:32843632G>A	uc001bvi.3	-	7	713	c.666C>T	c.(664-666)gaC>gaT	p.D222D	BSDC1_uc001bvh.4_Silent_p.D205D|BSDC1_uc010ohg.2_Silent_p.D222D|BSDC1_uc010ohh.2_Silent_p.D149D|BSDC1_uc010ohi.2_Silent_p.D110D|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.D101D			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	205							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTCAGGGCGTCCCTCCGGG	0.622												
IL12RB2	3595	broad.mit.edu	37	1	67787302	67787302	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:67787302G>A	uc001ddu.3	+	2	734	c.94G>A	c.(94-96)Gat>Aat	p.D32N	IL12RB2_uc010oqi.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	32					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAGAGAGGCGATGTGACTGT	0.393												
SYDE2	84144	broad.mit.edu	37	1	85624652	85624652	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:85624652G>A	uc009wcm.3	-	6	3415	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1122					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTTTCTCCGATTTTTCTAT	0.363												
GBP3	2635	broad.mit.edu	37	1	89481028	89481028	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:89481028T>C	uc001dmt.3	-	2	465	c.260A>G	c.(259-261)aAa>aGa	p.K87R	GBP3_uc010oss.2_Missense_Mutation_p.K8R|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.K87R	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	87						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTGGCTTTTTGGGGTGAGG	0.483												
FAM46C	54855	broad.mit.edu	37	1	118166248	118166248	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:118166248G>A	uc021osq.1	+	0	758	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	FAM46C_uc001ehe.3_Missense_Mutation_p.R253Q	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	253								p.R253L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCTTGTGCGGGACTTCAGG	0.517			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)		
HRNR	388697	broad.mit.edu	37	1	152192393	152192393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:152192393C>T	uc001ezt.1	-	2	1788	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	571					keratinization		calcium ion binding|protein binding	p.R571H(2)|p.S570S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTTGAAGA	0.592												
SPTA1	6708	broad.mit.edu	37	1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:158639308G>A	uc001fst.1	-	13	1922	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	575					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.R575H(1)		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)					AGCAATCTACGTCTAGTGGCA	0.448												
CCDC19	25790	broad.mit.edu	37	1	159846467	159846467	+	Missense_Mutation	SNP	G	G	A	rs141229765		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:159846467G>A	uc001fui.3	-	9	1249	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R326W|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	411						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTTCTTCCGCGCATTTTCC	0.577												
ANGEL2	90806	broad.mit.edu	37	1	213178541	213178541	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:213178541G>A	uc001hjz.3	-	4	1123	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ANGEL2_uc010pto.2_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.2_Missense_Mutation_p.T197M|ANGEL2_uc001hka.3_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.2_Non-coding_Transcript	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGCCAATTGCGTCAGCTTAAT	0.453												
USH2A	7399	broad.mit.edu	37	1	216143995	216143995	+	Missense_Mutation	SNP	G	G	A	rs151057466	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:216143995G>A	uc001hku.1	-	35	7316	c.6929C>T	c.(6928-6930)aCg>aTg	p.T2310M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2310	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2310M(2)|p.T2310T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTTTGGCCGTGCATGCTTG	0.408										HNSCC(13;0.011)		
LYST	1130	broad.mit.edu	37	1	235940405	235940405	+	Silent	SNP	G	G	A	rs146990900		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:235940405G>A	uc001hxj.2	-	16	5593	c.5418C>T	c.(5416-5418)caC>caT	p.H1806H	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1806					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACCAATTTCGTGCAGAATGC	0.348												
PLXDC2	84898	broad.mit.edu	37	10	20466312	20466312	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr10:20466312C>G	uc001iqg.1	+	8	1672	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	345	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGGCTTCAACTGCAGTTGGT	0.313												
OR4X2	119764	broad.mit.edu	37	11	48266683	48266683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:48266683T>C	uc001ngs.1	+	0	28	c.28T>C	c.(28-30)Tct>Cct	p.S10P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGGTACTTTCTCCCAACCA	0.423												
LRRC55	219527	broad.mit.edu	37	11	56950158	56950158	+	Splice_Site	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:56950158G>A	uc001njl.2	+	1	937	c.790_splice	c.e1+1	p.D264_splice		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	234	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGTACAGCAGGTAATAGAGGG	0.587												
APLNR	187	broad.mit.edu	37	11	57003536	57003536	+	Missense_Mutation	SNP	G	G	A	rs137997556		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57003536G>A	uc001njo.3	-	0	1392	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	315						integral to plasma membrane	G-protein coupled receptor activity	p.R315C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCGGAAGCGGGGGTCGAAA	0.587												
SMTNL1	219537	broad.mit.edu	37	11	57310651	57310651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57310651C>T	uc021qjh.1	+	0	538	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	179										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAGGAGACAGGCCAGAGG	0.547												
CD248	57124	broad.mit.edu	37	11	66082764	66082764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:66082764C>T	uc001ohm.1	-	0	1752	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	579	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGCTGGGTGGCCTGGGTTCTG	0.612												
C12orf57	113246	broad.mit.edu	37	12	7054965	7054965	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7054965C>T	uc001qrz.3	+	2	343	c.261C>T	c.(259-261)tcC>tcT	p.S87S	PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.	87										kidney(1)|large_intestine(1)	2						TGGTCAAGTCCTACGAAGCCC	0.602												
ACSM4	341392	broad.mit.edu	37	12	7469737	7469737	+	Missense_Mutation	SNP	G	G	A	rs139422294	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7469737G>A	uc001qsx.1	+	3	625	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	209					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(1)		endometrium(6)|kidney(1)|lung(14)	21						TTGCAGATTCGCCTCTGAAGA	0.483												
TM7SF3	51768	broad.mit.edu	37	12	27127064	27127064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:27127064G>A	uc010sjl.2	-	11	1785	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	516						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TAACTTGTATGGGTGGGGAGG	0.493												
DIP2B	57609	broad.mit.edu	37	12	51122397	51122397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:51122397C>T	uc001rwv.3	+	29	3733	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	DIP2B_uc009zlt.3_Missense_Mutation_p.R623W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1193						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTACTCTTCTCGGCAGATCGC	0.532												
ACACB	32	broad.mit.edu	37	12	109680275	109680275	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:109680275C>G	uc001tob.3	+	36	5175	c.5056C>G	c.(5056-5058)Ccc>Gcc	p.P1686A	ACACB_uc001toc.3_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P352A	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1686					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAAGCAAGGGCCCCAGCACGG	0.522												
KSR2	283455	broad.mit.edu	37	12	118298128	118298128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:118298128G>A	uc001two.2	-	1	257	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	97					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGACGATTCGGAACCAGTGC	0.627												
RBM25	58517	broad.mit.edu	37	14	73569957	73569957	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr14:73569957C>T	uc010ttu.2	+	10	1201	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RBM25_uc001xno.3_Missense_Mutation_p.R309W|RBM25_uc001xnp.3_Missense_Mutation_p.R104W	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	309	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		tgagaaagaacggagagaaag	0.428												
MKRN3	7681	broad.mit.edu	37	15	23811493	23811493	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:23811493C>T	uc001ywh.4	+	0	1040	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.D188D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	188						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACAATGCAGACCGTGGAGCTG	0.617												
GABRA5	2558	broad.mit.edu	37	15	27193227	27193227	+	Silent	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:27193227T>A	uc001zbd.2	+	10	1768	c.1236T>A	c.(1234-1236)acT>acA	p.T412T	GABRA5_uc021sgi.1_Silent_p.T412T|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	412					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGAGAAGACTTCTGAAAGCA	0.453												
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:28518115delC	uc001zbj.3	-	7	942	c.836delG	c.(835-837)ggafs	p.G279fs	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	279					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.G279V(2)|p.G279fs*25(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592												
DNAJA4	55466	broad.mit.edu	37	15	78567950	78567950	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:78567950C>G	uc002bdi.3	+	5	1013	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	DNAJA4_uc002bdj.2_Missense_Mutation_p.Q253E|DNAJA4_uc002bdk.3_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.2_Missense_Mutation_p.Q37E	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	253					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TAGTGTCTTTCAGAGACGAGG	0.413												
LRRC28	123355	broad.mit.edu	37	15	99901711	99901711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:99901711T>A	uc002bva.1	+	7	1021	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	289										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CACAGCTTGCTGAAAGGTACG	0.458											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RBBP6	5930	broad.mit.edu	37	16	24583037	24583037	+	Silent	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr16:24583037T>C	uc002dmh.3	+	17	5690	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RBBP6_uc002dmi.3_Silent_p.D1516D|RBBP6_uc010bxr.3_Silent_p.D710D|RBBP6_uc002dmk.3_Silent_p.D1383D	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCACTTATGATACTAAACGGC	0.363												
PITPNA	5306	broad.mit.edu	37	17	1456417	1456417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:1456417C>T	uc021tng.1	-	2	334	c.78G>A	c.(76-78)gtG>gtA	p.V26V	PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	26					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TGGCCTCAGCCACAGAATACA	0.512												
DVL2	1856	broad.mit.edu	37	17	7134114	7134114	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:7134114A>C	uc002gez.1	-	1	479	c.197T>G	c.(196-198)gTg>gGg	p.V66G	DVL2_uc010vtr.1_Missense_Mutation_p.V66G|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.V66G	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	66	DIX.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTCCTTCACCACCCTGCCAAG	0.577												
SLC47A1	55244	broad.mit.edu	37	17	19459334	19459334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:19459334G>A	uc002gvx.3	+	9	966	c.880G>A	c.(880-882)Gct>Act	p.A294T	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	294						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGAGCTGGGCGCTCAGTCCAT	0.582												
KSR1	8844	broad.mit.edu	37	17	25909866	25909866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:25909866C>T	uc010crg.3	+	4	749	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	237					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCAGACTCCCCCACCCCCAG	0.706												
NF1	4763	broad.mit.edu	37	17	29654793	29654793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:29654793G>A	uc002hgg.3	+	37	5928	c.5545G>A	c.(5545-5547)Gat>Aat	p.D1849N	NF1_uc002hgh.3_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.3_Missense_Mutation_p.D37N	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1849					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.?(3)|p.D1849N(2)	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)		TCGGCCAAAAGATGTCCCTGG	0.468			"""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)		
CALCOCO2	10241	broad.mit.edu	37	17	46937756	46937756	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:46937756A>G	uc010wlr.2	+	11	1240	c.1161A>G	c.(1159-1161)tcA>tcG	p.S387S	CALCOCO2_uc010wlq.2_Silent_p.S291S|CALCOCO2_uc010wls.2_Silent_p.S321S|CALCOCO2_uc002iof.3_Silent_p.S363S|CALCOCO2_uc010wlp.2_Silent_p.S384S	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	363					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACCTACTTCAGATGAAGGAG	0.438												
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:61560492G>A	uc002jau.2	+	8	1479	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R299H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552												
SLC38A10	124565	broad.mit.edu	37	17	79220094	79220094	+	Silent	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:79220094G>C	uc002jzz.1	-	15	2997	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L	SLC38A10_uc002jzy.1_Silent_p.L792L|SLC38A10_uc021uey.1_5'UTR	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	874					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATTCCTCTGCGAGGCGCTCCT	0.657												
DLGAP1	9229	broad.mit.edu	37	18	3534543	3534543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:3534543delG	uc002kmf.3	-	9	2655	c.2128delC	c.(2128-2130)ctgfs	p.L710fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.L710fs|DLGAP1_uc010dkn.3_Frame_Shift_Del_p.L418fs|DLGAP1_uc002kme.2_Frame_Shift_Del_p.L408fs|DLGAP1_uc010wyw.2_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.2_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.2_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.3_Frame_Shift_Del_p.L408fs	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	710					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAATTTTCCAGATTATCATGG	0.498												
NAPG	8774	broad.mit.edu	37	18	10548993	10548993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:10548993G>A	uc002kon.3	+	10	922	c.695G>A	c.(694-696)tGt>tAt	p.C232Y	NAPG_uc010wzr.2_Missense_Mutation_p.C150Y|NAPG_uc002kop.3_Missense_Mutation_p.C145Y	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	232					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGTGAAGACTGTGCTGCCCTG	0.473												
MUC16	94025	broad.mit.edu	37	19	9048365	9048365	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:9048365G>T	uc002mkp.3	-	4	33470	c.33266C>A	c.(33265-33267)aCt>aAt	p.T11089N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11091	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGAAACAGTTGGAGTTGG	0.488												
NFIX	4784	broad.mit.edu	37	19	13201118	13201118	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:13201118G>A	uc010xmx.2	+	9	1485	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	NFIX_uc002mwd.3_Silent_p.S420S|NFIX_uc002mwe.3_Silent_p.S412S|NFIX_uc002mwf.3_Silent_p.S382S|NFIX_uc002mwg.2_Silent_p.S419S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	470					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACAGCATTCGCAACGACAGG	0.642												
CCDC105	126402	broad.mit.edu	37	19	15132653	15132653	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:15132653A>G	uc002nae.2	+	5	1272	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	391					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGACCGCAGAAAAGCTGGACA	0.647												
CLPTM1	1209	broad.mit.edu	37	19	45494188	45494188	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45494188C>T	uc002pai.3	+	10	1458	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	CLPTM1_uc010xxf.2_Silent_p.T366T|CLPTM1_uc010xxg.2_Silent_p.T454T|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	468					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTCCTCGACCAAAGTGTATG	0.607												
ERCC1	2067	broad.mit.edu	37	19	45923654	45923654	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45923654T>C	uc002pbs.2	-	3	499	c.353A>G	c.(352-354)aAt>aGt	p.N118S	ERCC1_uc002pbt.2_Missense_Mutation_p.N118S|ERCC1_uc002pbu.2_Missense_Mutation_p.N46S|ERCC1_uc002pbv.3_Missense_Mutation_p.N118S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	118					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGGGCACATTGCGCACGAA	0.597								Nucleotide excision repair (NER)				
PRR12	57479	broad.mit.edu	37	19	50099367	50099367	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:50099367C>T	uc002poo.4	+	3	1775	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	356	Pro-rich.						DNA binding	p.G592V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACCTGAGCTCAGTCTTGGCC	0.657												
LENG8	114823	broad.mit.edu	37	19	54968952	54968952	+	Silent	SNP	C	C	A	rs142424676	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:54968952C>A	uc002qfv.1	+	10	1791	c.1647C>A	c.(1645-1647)gtC>gtA	p.V549V	LENG8_uc002qfw.2_Silent_p.V586V			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	549							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537												
ZNF552	79818	broad.mit.edu	37	19	58319417	58319417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:58319417C>T	uc002qqg.3	-	2	1385	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.K401K	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCATAAGCCCTTTCTTTTGT	0.398												
APOB	338	broad.mit.edu	37	2	21249770	21249770	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:21249770G>A	uc002red.3	-	14	2262	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	712					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F711L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACTGTCTGGGAAAAATCCT	0.413												
MSH6	2956	broad.mit.edu	37	2	48026476	48026476	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:48026476A>G	uc002rwd.4	+	3	1506	c.1354A>G	c.(1354-1356)Atg>Gtg	p.M452V	MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.3_Missense_Mutation_p.M150V|MSH6_uc010yoj.2_Missense_Mutation_p.M150V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	452					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGTATTCATGAAAGGCAA	0.453			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome			
SEMA4F	10505	broad.mit.edu	37	2	74900889	74900889	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:74900889G>A	uc002sna.1	+	6	867	c.756G>A	c.(754-756)acG>acA	p.T252T	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.T252T|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	252	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCTTCTTTACGGAGACTTCCC	0.567												
LOC442028	442028	broad.mit.edu	37	2	95539132	95539132	+	Splice_Site	SNP	A	A	G	rs74376788	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:95539132A>G	uc021vlc.1	-	7		c.805_splice	c.e7+1		LOC442028_uc002stv.1_Splice_Site|TEKT4_uc002stw.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC442028 (LOC442028), non-coding RNA.																		AGCAGAACTTACACAGTCAGA	0.567												
SDPR	8436	broad.mit.edu	37	2	192711627	192711627	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:192711627C>T	uc002utb.3	-	0	380	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	9						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGAACTTTTCGGCCTGTGCA	0.612												
SIRPG	55423	broad.mit.edu	37	20	1615912	1615912	+	Splice_Site	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:1615912C>T	uc002wfm.1	-	4	1146	c.1081_splice	c.e4+1	p.G361_splice	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	361					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGTAACCTCACCAGGGGTAGC	0.428												
TSHZ2	128553	broad.mit.edu	37	20	51872367	51872367	+	Silent	SNP	C	C	T	rs138612067		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:51872367C>T	uc002xwo.3	+	1	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	TSHZ2_uc021wex.1_Silent_p.H787H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	790					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H790H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557												
ADRM1	11047	broad.mit.edu	37	20	60882680	60882680	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:60882680C>T	uc002ycn.3	+	6	732	c.652C>T	c.(652-654)Ccg>Tcg	p.P218S	ADRM1_uc002yco.3_Missense_Mutation_p.P218S	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	218	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGCGGTCACCCCGTCATCCAC	0.701												
OSBP2	23762	broad.mit.edu	37	22	31137177	31137177	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:31137177G>A	uc003aiy.1	+	1	778	c.674G>A	c.(673-675)cGt>cAt	p.R225H	OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	225	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CACACGTGCCGTGGAACCATC	0.542												
EP300	2033	broad.mit.edu	37	22	41564810	41564810	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:41564810C>T	uc003azl.4	+	24	4506	c.4111C>T	c.(4111-4113)Ctg>Ttg	p.L1371L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1371					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTGTTGACCTGTGCTTCTT	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome			
ACAA1	30	broad.mit.edu	37	3	38175476	38175476	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:38175476C>T	uc003cht.3	-	2	497	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ACAA1_uc003chu.3_Missense_Mutation_p.G97E	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGATTGCCCCGGCCCCAGG	0.522												
C3orf67	200844	broad.mit.edu	37	3	58870384	58870384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:58870384C>T	uc003dkt.1	-	6	636	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	76								p.R76Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGACAGCTTCGTGGTATAAT	0.393												
C3orf17	25871	broad.mit.edu	37	3	112738408	112738408	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738408C>T	uc003dzr.3	-	0	148	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.Q28Q|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGCCGGGGTTCTGCACTGTCA	0.731												
C3orf17	25871	broad.mit.edu	37	3	112738411	112738411	+	Silent	SNP	C	C	T	rs144842364	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738411C>T	uc003dzr.3	-	0	145	c.84G>A	c.(82-84)gtG>gtA	p.V28V	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.V27V|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	28						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGGGGTTCTGCACTGTCACTG	0.726												
C3orf17	25871	broad.mit.edu	37	3	112738459	112738459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738459C>T	uc003dzr.3	-	0	97	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	12						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCACACGGTTCCACGGCTCCA	0.701												
IFT80	57560	broad.mit.edu	37	3	160075296	160075296	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:160075296C>T	uc021xgr.1	-	5	666	c.620G>A	c.(619-621)gGt>gAt	p.G207D	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.G70D|IFT80_uc021xgq.1_Missense_Mutation_p.G205D|IFT80_uc003fde.2_Missense_Mutation_p.G70D|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	207						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGTCTTCACCAGCAGATAA	0.264												
GPR125	166647	broad.mit.edu	37	4	22414939	22414939	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:22414939C>T	uc003gqm.1	-	13	2363	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	GPR125_uc010ieo.1_Missense_Mutation_p.V556I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	700	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGGGCTGCAACAGCATCTGCT	0.443												
PHOX2B	8929	broad.mit.edu	37	4	41748308	41748308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:41748308C>T	uc003gwf.4	-	2	821	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	154					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCCTGCTTGCGAAACTTGGC	0.617			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
SGMS2	166929	broad.mit.edu	37	4	108820833	108820833	+	Silent	SNP	C	C	T	rs150340532		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:108820833C>T	uc003hyo.3	+	2	1197	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SGMS2_uc003hyl.4_Silent_p.F186F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.F186F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	186					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	GAATGCATTTCCAGTGTGCTC	0.398												
AP1AR	55435	broad.mit.edu	37	4	113189433	113189433	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:113189433G>A	uc003iaj.4	+	9	1130	c.777G>A	c.(775-777)gaG>gaA	p.E259E	AP1AR_uc003iak.4_Silent_p.E226E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.	259					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATGGGCTGGAGTGGGAAAATG	0.403												
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468												
HNRNPA1P12	644037	broad.mit.edu	37	5	79655242	79655242	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:79655242C>T								CRSP8P (7457 upstream) : ZFYVE16 (48596 downstream)																							accacctccacgaccaccacc	0.517												
PAM	5066	broad.mit.edu	37	5	102284128	102284128	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:102284128G>C	uc003knt.3	+	7	995	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	PAM_uc003knw.3_Missense_Mutation_p.V208L|PAM_uc003kns.3_Missense_Mutation_p.V208L|PAM_uc003knu.3_Missense_Mutation_p.V208L|PAM_uc011cuz.2_Missense_Mutation_p.V111L|PAM_uc003knv.3_Missense_Mutation_p.V208L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	208	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTGACACTGTTATCCCAGC	0.303												
KIF4B	285643	broad.mit.edu	37	5	154396823	154396823	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:154396823C>A	uc010jih.1	+	0	3564	c.3404C>A	c.(3403-3405)aCc>aAc	p.T1135N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1135	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTGAACAGACCCAGGATTCC	0.537												
GRM6	2916	broad.mit.edu	37	5	178416095	178416095	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:178416095C>T	uc003mjr.3	-	5	1374	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	399					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACCTTGCCCTCCTGCTCG	0.667												
DSP	1832	broad.mit.edu	37	6	7581804	7581804	+	Splice_Site	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:7581804T>A	uc003mxp.1	+	23	5658	c.5379_splice	c.e23+2	p.E1793_splice	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTTTAGAGGTATTCACAAAT	0.373												
BTBD9	114781	broad.mit.edu	37	6	38224188	38224188	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:38224188C>A	uc003ooa.4	-	9	2135	c.1559G>T	c.(1558-1560)tGc>tTc	p.C520F	BTBD9_uc010jwv.3_Missense_Mutation_p.C490F|BTBD9_uc003ony.4_Missense_Mutation_p.C452F|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.C520F	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	520					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AACTTACTTGCAGGAGACTTT	0.408												
ABCA13	154664	broad.mit.edu	37	7	48312026	48312026	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:48312026C>T	uc003toq.2	+	16	2787	c.2763C>T	c.(2761-2763)taC>taT	p.Y921Y	ABCA13_uc010kyr.2_Silent_p.Y424Y|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	921					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGTCTACGCTATCAGGA	0.378												
WBSCR17	64409	broad.mit.edu	37	7	70880884	70880884	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:70880884A>G	uc003tvy.3	+	3	599	c.599A>G	c.(598-600)aAg>aGg	p.K200R	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	200	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L199L(1)|p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGAGCTGAAGGTCCCCCTA	0.498												
PCLO	27445	broad.mit.edu	37	7	82581587	82581587	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:82581587A>G	uc003uhx.2	-	4	8971	c.8682T>C	c.(8680-8682)gaT>gaC	p.D2894D	PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2825					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTACTTCCCCATCAGTGATTC	0.438												
ZCWPW1	55063	broad.mit.edu	37	7	100017491	100017491	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:100017491G>C	uc003uut.3	-	3	292	c.44C>G	c.(43-45)cCa>cGa	p.P15R	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	15							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATTCTCTTTGGTCCCTTTCC	0.448												
FOXP2	93986	broad.mit.edu	37	7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:114304409G>A	uc003vhb.3	+	15	2295	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V666I|FOXP2_uc003vha.3_Missense_Mutation_p.V549I|FOXP2_uc011kmv.2_Missense_Mutation_p.V640I|FOXP2_uc011kmu.2_Missense_Mutation_p.V658I|FOXP2_uc010ljz.2_Missense_Mutation_p.V456I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	641					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483												
TES	26136	broad.mit.edu	37	7	115889085	115889085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:115889085G>A	uc003vho.3	+	2	340	c.125G>A	c.(124-126)cGt>cAt	p.R42H	TES_uc011kmx.2_Missense_Mutation_p.R42H|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33H|TES_uc003vhp.3_Missense_Mutation_p.R33H|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	42	Cys-rich.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAATATGTCGTAACTGCAAG	0.313												
WDR91	29062	broad.mit.edu	37	7	134878049	134878049	+	Silent	SNP	G	G	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:134878049G>T	uc003vsp.2	-	10	1655	c.1593C>A	c.(1591-1593)ggC>ggA	p.G531G	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.G120G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	531										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCCCTTGCTGCCGATGTCTG	0.622												
HTR5A	3361	broad.mit.edu	37	7	154863097	154863097	+	Missense_Mutation	SNP	C	C	T	rs150537072	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:154863097C>T	uc003wlu.1	+	0	552	c.488C>T	c.(487-489)gCg>gTg	p.A163V	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCATGATCGCGCTCACCTGG	0.627												
PTK2B	2185	broad.mit.edu	37	8	27310672	27310672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:27310672G>A	uc003xfn.2	+	32	3398	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	PTK2B_uc022ate.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.2_Missense_Mutation_p.A864T|PTK2B_uc003xfq.2_Missense_Mutation_p.A822T	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	864	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGCTGGGCGCACAGGTATG	0.517												
TEX15	56154	broad.mit.edu	37	8	30705979	30705979	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:30705979G>A	uc003xil.3	-	0	555	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	185								p.S185S(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413												
RRAGA	10670	broad.mit.edu	37	9	19050150	19050150	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:19050150T>A	uc003znj.3	+	0	779	c.493T>A	c.(493-495)Tgg>Agg	p.W165R		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	165					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						AACGTCCATCTGGGATGAGAC	0.522												
CCL19	6363	broad.mit.edu	37	9	34690006	34690006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:34690006C>T	uc003zvn.3	-	2	335	c.197G>A	c.(196-198)aGg>aAg	p.R66K	CCL19_uc010mkf.3_Intron	NM_006274	NP_006265	Q99731	CCL19_HUMAN	Homo sapiens chemokine (C-C motif) ligand 19 (CCL19), mRNA.	66					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGCGGCCCCTCAGTGTGGT	0.622												
PAX5	5079	broad.mit.edu	37	9	36846902	36846902	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:36846902T>C	uc003zzo.1	-	8	1485	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	346					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)|p.Y346C(2)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGGGTGGCTGTAGGGACTCCC	0.597			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""							
RAD23B	5887	broad.mit.edu	37	9	110084309	110084309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:110084309C>T	uc004bde.3	+	6	1121	c.727C>T	c.(727-729)Caa>Taa	p.Q243*	RAD23B_uc011lwa.2_Nonsense_Mutation_p.Q243*|RAD23B_uc022blj.1_Nonsense_Mutation_p.Q171*|RAD23B_uc011lwb.2_Nonsense_Mutation_p.Q222*	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	243					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGACCCCCCTCAAGCAGCTAG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)				
C9orf91	203197	broad.mit.edu	37	9	117396107	117396107	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:117396107G>A	uc004bjd.4	+	5	751	c.534G>A	c.(532-534)cgG>cgA	p.R178R	C9orf91_uc004bje.4_Silent_p.R157R|C9orf91_uc004bjf.4_Silent_p.R77R	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.	178						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGACACCGGGTGCTGCTGG	0.567												
SEC16A	9919	broad.mit.edu	37	9	139358176	139358176	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:139358176G>A	uc004chx.3	-	9	4772	c.4463C>T	c.(4462-4464)aCg>aTg	p.T1488M	SEC16A_uc004chv.4_Missense_Mutation_p.T878M|SEC16A_uc004chw.3_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.3_Missense_Mutation_p.T1488M	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1310					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTCAGACGTGTGCTGCAG	0.647