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
TMCO4	255104	broad.mit.edu	37	1	20107156	20107156	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:20107156C>T	uc001bcn.3	-	3	338	c.96G>A	c.(94-96)cgG>cgA	p.R32R	TMCO4_uc001bco.1_Silent_p.R32R|TMCO4_uc001bcp.1_Silent_p.R32R|TMCO4_uc009vpn.1_Silent_p.R32R|TMCO4_uc001bcq.1_Silent_p.R32R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	32						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTCAGCTCCCGGCCCGTGG	0.612												
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:27101098C>T	uc001bmv.1	+	17	4753	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_uc001bmt.1_Silent_p.G1459G|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.G1077G|ARID1A_uc001bmx.1_Silent_p.G306G|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1460					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
GNL2	29889	broad.mit.edu	37	1	38049466	38049466	+	Splice_Site	DEL	A	A	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:38049466delA	uc001cbk.3	-	6	799	c.636_splice	c.e6+1	p.K212_splice	GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	212					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGGAGTCTTACCTTGTAGAG	0.383												
ISG20L2	81875	broad.mit.edu	37	1	156697400	156697400	+	Silent	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:156697400G>C	uc001fps.1	-	0	306	c.45C>G	c.(43-45)ccC>ccG	p.P15P	ISG20L2_uc001fpt.1_Silent_p.P15P|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	15					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCCTTTTTGGGAGGAGGTT	0.458												
NFASC	23114	broad.mit.edu	37	1	204943900	204943900	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:204943900G>A	uc010prc.2	+	12	1737	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	NFASC_uc001hbh.3_Missense_Mutation_p.A503T|NFASC_uc010pqz.2_Missense_Mutation_p.A497T|NFASC_uc001hbj.3_Missense_Mutation_p.A503T|NFASC_uc010pra.2_Missense_Mutation_p.A514T|NFASC_uc001hbi.3_Missense_Mutation_p.A514T|NFASC_uc010prb.2_Missense_Mutation_p.A514T|NFASC_uc001hbk.1_Missense_Mutation_p.A324T			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	503	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.A503T(2)|p.A514T(1)|p.W69*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGTGTCGCCACCAACAT	0.532												
OBSCN	84033	broad.mit.edu	37	1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:228520994C>T	uc009xez.1	+	57	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_uc001hsn.3_Missense_Mutation_p.R5276C|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5276	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637												
OR2W5	441932	broad.mit.edu	37	1	247654765	247654765	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:247654765C>T	uc001icz.2	+	0	396	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602												
ACTA2	59	broad.mit.edu	37	10	90699345	90699345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr10:90699345C>T	uc001kfp.3	-	6	843	c.727G>A	c.(727-729)Gag>Aag	p.E243K	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E198K|ACTA2_uc001kfq.3_Missense_Mutation_p.E243K|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	243					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCAGGCAACTCGTAACTCTTC	0.512												
OR51E2	81285	broad.mit.edu	37	11	4703067	4703067	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:4703067C>G	uc001lzk.2	-	1	1119	c.875G>C	c.(874-876)gGt>gCt	p.G292A	OR51E2_uc021qcr.1_Missense_Mutation_p.G292A	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507												
OR5I1	10798	broad.mit.edu	37	11	55703533	55703533	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:55703533A>T	uc010ris.2	-	0	344	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGGATGAAGGATTCTGT	0.433												
AHNAK	79026	broad.mit.edu	37	11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:62285595C>T	uc001ntl.3	-	4	16594	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5432					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527												
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483												
KIAA1377	57562	broad.mit.edu	37	11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	rs145886481		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:101815013G>A	uc001pgm.3	+	2	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313												
UBASH3B	84959	broad.mit.edu	37	11	122653798	122653798	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:122653798G>A	uc001pyi.4	+	4	999	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	213						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCTACATGTGACCCTGGCTT	0.473												
APLP2	334	broad.mit.edu	37	11	130005535	130005535	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:130005535G>A	uc010sby.2	+	12	1919	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	APLP2_uc001qfp.3_Missense_Mutation_p.V588M|APLP2_uc001qfq.3_Missense_Mutation_p.V532M|APLP2_uc010sbz.2_Missense_Mutation_p.V376M|APLP2_uc001qfr.3_Missense_Mutation_p.V354M|APLP2_uc001qfs.3_Missense_Mutation_p.V359M|APLP2_uc021qsg.1_Missense_Mutation_p.V598M|APLP2_uc001qfv.3_Missense_Mutation_p.V479M|DQ600312_uc021qsh.1_5'Flank	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	588					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGACGTCCGGGTGAGCTCTGA	0.592												
CAPRIN2	65981	broad.mit.edu	37	12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	rs139487645	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:30888067C>T	uc001rji.1	-	3	1395	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjk.4_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.R215Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	215					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R215Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTATAGTTCGAAGCTTTTT	0.413												
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428												
PPFIA2	8499	broad.mit.edu	37	12	81747072	81747072	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:81747072C>A	uc001szo.2	-	16	1981	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G533V|PPFIA2_uc021rbh.1_Missense_Mutation_p.G508V|PPFIA2_uc021rbi.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbj.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbk.1_Missense_Mutation_p.G589V|PPFIA2_uc021rbl.1_Missense_Mutation_p.G607V|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G174V|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	533								p.G607G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTAGTACTCCAATCTGTTG	0.368												
ANO4	121601	broad.mit.edu	37	12	101520783	101520783	+	Missense_Mutation	SNP	C	C	T	rs139827573		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:101520783C>T	uc010svm.1	+	26	3375	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)		
TMEM132D	121256	broad.mit.edu	37	12	130184923	130184923	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:130184923G>C	uc009zyl.1	-	1	728	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	134						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTCCCGCAGGATGTGGGCT	0.537												
FLT1	2321	broad.mit.edu	37	13	28931760	28931760	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:28931760C>A	uc001usb.3	-	14	2464	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C		NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	727	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.G727C(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGATAGACACCTTCATCCTCT	0.448												
BIVM-ERCC5	2073	broad.mit.edu	37	13	103491945	103491945	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:103491945C>T	uc001vpu.2	+	8	1364	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	BIVM-ERCC5_uc001vps.3_Silent_p.I414I|BIVM-ERCC5_uc010agc.3_Silent_p.I192I|BIVM-ERCC5_uc001vpv.3_Silent_p.I185I	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	385					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGCATTGCATCATAGCATTCC	0.398												
ANKRD10	55608	broad.mit.edu	37	13	111532388	111532388	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:111532388G>A	uc001vrn.3	-	5	994	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ANKRD10_uc001vrm.3_Missense_Mutation_p.P24S|ANKRD10_uc001vrl.3_Non-coding_Transcript	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	287										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTCGTGGAGGGGAAGTCCAAA	0.473												
TGM5	9333	broad.mit.edu	37	15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:43552685G>A	uc001zrd.2	-	1	111	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_uc001zre.2_Missense_Mutation_p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	35					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572												
PML	5371	broad.mit.edu	37	15	74315385	74315385	+	Silent	SNP	C	C	T	rs112627818		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:74315385C>T	uc002awv.3	+	2	959	c.819C>T	c.(817-819)gcC>gcT	p.A273A	PML_uc002awj.1_Silent_p.A273A|PML_uc002awm.3_Silent_p.A273A|PML_uc002awl.3_Silent_p.A273A|PML_uc002awk.3_Silent_p.A273A|PML_uc002awn.3_Silent_p.A273A|PML_uc002awo.3_Silent_p.A273A|PML_uc002awp.3_Silent_p.A273A|PML_uc002awq.3_Silent_p.A273A|PML_uc002awr.3_Silent_p.A273A|PML_uc002aws.3_Silent_p.A273A|PML_uc002awt.3_Silent_p.A273A|PML_uc002awu.3_Silent_p.A273A|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.A188A|PML_uc002awx.3_Silent_p.A31A|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	273					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A273A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCGCGTGCCGAGACCGAGG	0.716			T	"""RARA, PAX5"""	"""APL, ALL"""							
ZNF597	146434	broad.mit.edu	37	16	3490932	3490932	+	Missense_Mutation	SNP	C	C	A	rs139189056	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:3490932C>A	uc002cvd.3	-	3	218	c.34_splice	c.e3-1	p.G12_splice	NAA60_uc002cvh.4_5'Flank|NAA60_uc010uxb.1_5'Flank	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTATTGGTCCCTGAAACAC	0.507												
RBFOX1	54715	broad.mit.edu	37	16	7568246	7568246	+	Missense_Mutation	SNP	C	C	T	rs146499343		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:7568246C>T	uc002cys.2	+	4	1113	c.125C>T	c.(124-126)aCg>aTg	p.T42M	RBFOX1_uc010buf.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyr.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyt.2_Missense_Mutation_p.T42M|RBFOX1_uc010uxz.1_Missense_Mutation_p.T85M|RBFOX1_uc010uya.1_Missense_Mutation_p.T78M|RBFOX1_uc002cyv.1_Missense_Mutation_p.T42M|RBFOX1_uc010uyb.1_Missense_Mutation_p.T42M|RBFOX1_uc002cyw.2_Missense_Mutation_p.T62M|RBFOX1_uc002cyy.2_Missense_Mutation_p.T62M|RBFOX1_uc002cyx.2_Missense_Mutation_p.T62M|RBFOX1_uc010uyc.1_Missense_Mutation_p.T62M	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	42					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGGAATACACGGCCCCTCAT	0.637												
ACSM1	116285	broad.mit.edu	37	16	20702408	20702408	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:20702408A>G	uc002dhm.1	-	0	171	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	35					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGGCTCCAAATTCTGATAAA	0.498												
VWA3A	146177	broad.mit.edu	37	16	22142922	22142922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:22142922C>T	uc010vbq.2	+	18	1840	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	582	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTGAACCTGCGGTGTCGGGG	0.577												
CD19	930	broad.mit.edu	37	16	28948983	28948983	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:28948983C>T	uc010byo.2	+	10	1473	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P471S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	471					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCTGACCCAGCCGGTCGCCAG	0.577												
MYBBP1A	10514	broad.mit.edu	37	17	4455265	4455265	+	Silent	SNP	C	C	T	rs149464957		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:4455265C>T	uc002fxz.4	-	7	995	c.933G>A	c.(931-933)gcG>gcA	p.A311A	MYBBP1A_uc002fyb.4_Silent_p.A311A	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	311	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCAGGGCCGCGCCCAGCA	0.632												
DVL2	1856	broad.mit.edu	37	17	7132476	7132476	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7132476T>C	uc002gez.1	-	7	1217	c.935A>G	c.(934-936)gAg>gGg	p.E312G	DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	312	PDZ.				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						GTCCCCTGGCTCAATGCGCCC	0.637												
DNAH2	146754	broad.mit.edu	37	17	7674216	7674216	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7674216A>T	uc002giu.1	+	25	4341	c.4327A>T	c.(4327-4329)Att>Ttt	p.I1443F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1443	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGAGATGATTCTCACAGT	0.493												
DNAH9	1770	broad.mit.edu	37	17	11523026	11523026	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:11523026G>T	uc002gne.3	+	5	1346	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	426	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAAGTCAAGGAATGGGATT	0.502												
FOXN1	8456	broad.mit.edu	37	17	26861357	26861357	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:26861357C>T	uc010crm.3	+	6	1134	c.936C>T	c.(934-936)ccC>ccT	p.P312P	FOXN1_uc002hbj.3_Silent_p.P312P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	312					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGACAGCACCCGATGGCTGGA	0.552												
SLFN13	146857	broad.mit.edu	37	17	33768202	33768202	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:33768202C>T	uc002hjk.1	-	3	2436	c.2106G>A	c.(2104-2106)ctG>ctA	p.L702L	SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc002hjm.2_Silent_p.L371L|SLFN13_uc010ctt.2_Silent_p.L384L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	702						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAGTAGTCCAGAAAGATCC	0.483												
MYOM1	8736	broad.mit.edu	37	18	3067533	3067533	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:3067533G>A	uc002klp.3	-	37	5119	c.4785C>T	c.(4783-4785)aaC>aaT	p.N1595N	MYOM1_uc002klq.3_Silent_p.N1499N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1595	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCCCCACACGTTGCAAGTGA	0.537												
ROCK1	6093	broad.mit.edu	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:18533573G>A	uc002kte.3	-	31	4968	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1343	Auto-inhibitory.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358												
DSC3	1825	broad.mit.edu	37	18	28598687	28598687	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:28598687C>A	uc002kwj.4	-	7	1177	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DSC3_uc002kwi.4_Missense_Mutation_p.C341F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	341	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTATGATACAAGTTGATGT	0.338												
EPG5	57724	broad.mit.edu	37	18	43493732	43493732	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:43493732C>T	uc002lbm.3	-	20	3855	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	EPG5_uc002lbo.1_Missense_Mutation_p.R1252Q|EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_5'UTR|EPG5_uc002lbn.2_Missense_Mutation_p.R127Q	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	1252					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AATAACTCTCCGGAGCTGGGA	0.488												
NETO1	81832	broad.mit.edu	37	18	70417298	70417298	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:70417298G>A	uc002lkw.3	-	9	1825	c.1541_splice	c.e9+1	p.R514_splice	NETO1_uc002lky.2_Splice_Site_p.R514_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	514					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATACTGACCGCTGGACGGCT	0.433												
CHAF1A	10036	broad.mit.edu	37	19	4433232	4433232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:4433232C>T	uc002mal.3	+	12	2469	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	790	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGATGCCGCCATCCCC	0.652								Chromatin Structure				
MUC16	94025	broad.mit.edu	37	19	9069201	9069201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:9069201C>T	uc002mkp.3	-	2	18449	c.18245G>A	c.(18244-18246)aGc>aAc	p.S6082N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6084	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						CAGGGCGGTGCTGTCCTCTTT	0.498												
CALR	811	broad.mit.edu	37	19	13051173	13051173	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13051173G>T	uc002mvu.2	+	4	689	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	203	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACTTCCTGCCACCCAAGA	0.532												
CACNA1A	773	broad.mit.edu	37	19	13340971	13340971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13340971C>T	uc002mwy.3	-	35	5689	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1821Q|CACNA1A_uc021ups.1_Missense_Mutation_p.R1818Q|CACNA1A_uc010xne.2_Missense_Mutation_p.R1821Q|CACNA1A_uc010dze.2_Missense_Mutation_p.R1818Q|CACNA1A_uc021upt.1_Missense_Mutation_p.R1819Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1819					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.L1817V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGGAGTCTCGGGTGAGGTA	0.597												
ZNF681	148213	broad.mit.edu	37	19	23927348	23927348	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:23927348T>C	uc002nrk.4	-	3	1146	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ZNF681_uc002nrl.4_Missense_Mutation_p.E266G|ZNF681_uc002nrj.4_Missense_Mutation_p.E266G	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTAGGGTTTCTCTCCAGTATG	0.393												
CAPNS1	826	broad.mit.edu	37	19	36633602	36633602	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:36633602G>T	uc002odi.1	+	3	449	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CAPNS1_uc002odk.3_Missense_Mutation_p.V98F|CAPNS1_uc002odj.3_Missense_Mutation_p.V98F|CAPNS1_uc002odl.3_Missense_Mutation_p.V98F	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	98	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGTGAGGAGGTCCGGCAGTT	0.622												
CEACAM4	1089	broad.mit.edu	37	19	42132051	42132051	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:42132051G>A	uc010xwd.1	-	1	459	c.348C>T	c.(346-348)gaC>gaT	p.D116D	CEACAM4_uc002orh.1_Silent_p.D116D	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	116	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522												
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:44933285G>A	uc002oze.1	-	5	2105	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542												
CEACAM20	125931	broad.mit.edu	37	19	45021184	45021184	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:45021184C>T	uc010ejn.1	-	5	1148	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CEACAM20_uc010ejo.1_Missense_Mutation_p.E378K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	378	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTTGGACTCGGCCCAACAC	0.582												
LIG1	3978	broad.mit.edu	37	19	48668866	48668866	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:48668866G>A	uc002pia.1	-	1					LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_5'UTR|LIG1_uc010xzg.1_5'UTR|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACTTTTCTTCGTCTGTCAGCT	0.463								Nucleotide excision repair (NER)				
LILRB5	10990	broad.mit.edu	37	19	54756388	54756388	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54756388G>T	uc010yer.1	-	9	1583	c.1472C>A	c.(1471-1473)gCt>gAt	p.A491D	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.A500D|LILRB5_uc002qez.3_Missense_Mutation_p.A400D|LILRB5_uc002qex.3_Missense_Mutation_p.A499D|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	499					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A499V(1)|p.A491V(1)|p.S490T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCGCAGCCCCTGCAGG	0.607												
LENG8	114823	broad.mit.edu	37	19	54967619	54967619	+	Silent	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54967619C>A	uc002qfv.1	+	8	1453	c.1309C>A	c.(1309-1311)Cga>Aga	p.R437R	LENG8_uc002qfw.2_Silent_p.R474R			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	437							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)		GGATCGGGGCCGAGGCAGGGC	0.682												
LILRB1	10859	broad.mit.edu	37	19	55146733	55146733	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:55146733A>G	uc002qgj.3	+	12	1923	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	LILRB1_uc010erp.1_Missense_Mutation_p.Q143R|LILRB1_uc002qgl.3_Missense_Mutation_p.Q528R|LILRB1_uc002qgk.3_Missense_Mutation_p.Q529R|LILRB1_uc002qgm.3_Missense_Mutation_p.Q529R|LILRB1_uc010erq.3_Missense_Mutation_p.Q512R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	528					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCGATGCCCAGGAAGAAAAC	0.612										HNSCC(37;0.09)		
GALP	85569	broad.mit.edu	37	19	56691958	56691958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:56691958C>T	uc002qmo.1	+	2	173	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TATCCAGGGACGAGGAGGCTG	0.602												
APOB	338	broad.mit.edu	37	2	21235218	21235218	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:21235218C>T	uc002red.3	-	25	4650	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1508					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			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)	GTGTTAGGATCCCTCTGACAA	0.458												
GPR113	165082	broad.mit.edu	37	2	26533656	26533656	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:26533656G>T	uc002rhe.4	-	10	2940	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P	GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	980					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGATGGGTGTAAGAA	0.572												
NBEAL1	65065	broad.mit.edu	37	2	204002914	204002914	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:204002914T>C	uc002uzt.3	+	28	4841	c.4508T>C	c.(4507-4509)aTc>aCc	p.I1503T	NBEAL1_uc021vvj.1_Missense_Mutation_p.I206T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1503							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGGGCAATCTCAGAAAAC	0.373												
MARCH4	57574	broad.mit.edu	37	2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:217234886C>T	uc002vgb.3	-	0	1865	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	33						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632												
UGT1A1	54576	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234526363A>G	uc002vup.3	+	0	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A	UGT1A1_uc010zmv.1_Missense_Mutation_p.T4A	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATGGCTCGCACAGGGTGGAC	0.562												
SPP2	6694	broad.mit.edu	37	2	234959451	234959451	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234959451G>A	uc002vvk.1	+	0	106	c.21G>A	c.(19-21)aaG>aaA	p.K7K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	7					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGGAGAAGATGACGATGA	0.423												
SDC4	6385	broad.mit.edu	37	20	43977015	43977016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:43977015_43977016insG	uc002xnu.3	-	0	49_50	c.9_10insC	c.(7-12)cccgccfs	p.P3fs	SDC4_uc010zws.2_5'UTR	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	3						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AACAGACGGGCGGGGGCCATGG	0.752			T	ROS1	NSCLC							
PARD6B	84612	broad.mit.edu	37	20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:49366649C>T	uc002xvo.3	+	2	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	248	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443												
RTEL1	51750	broad.mit.edu	37	20	62316891	62316891	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:62316891G>A	uc021wge.1	+	13	1377	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.D403N|RTEL1_uc011abd.2_Missense_Mutation_p.D427N|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.D180N	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	403					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTCAGTGTGGACCCCTCCGA	0.627												
TXNRD2	10587	broad.mit.edu	37	22	19870868	19870868	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr22:19870868C>T	uc021wlj.1	-	11	1099	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	356					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCAATGGCGTAGATGTGG	0.647												
TTLL3	26140	broad.mit.edu	37	3	9839460	9839463	+	Splice_Site	DEL	AGGT	AGGT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:9839460_9839463delAGGT	uc003btd.4	+	2	696	c.122_splice	c.e2+1	p.R41_splice	TTLL3_uc003btb.2_Splice_Site|TTLL3_uc003bta.2_Splice_Site|TTLL3_uc003bsz.2_Splice_Site_p.R41_splice|TTLL3_uc003btc.2_Splice_Site|TTLL3_uc021wsu.1_Splice_Site_p.R60_splice	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGTGGAAGTCAGGTAGGGAAGGAC	0.564												
GUCA1C	9626	broad.mit.edu	37	3	108627021	108627021	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:108627021C>A	uc003dxj.2	-	3	546	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	160	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGATCTTTTGCCATGCCATTG	0.398												
ABHD10	55347	broad.mit.edu	37	3	111697949	111697949	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:111697949C>T	uc003dyk.4	+	0	122	c.41C>T	c.(40-42)cCt>cTt	p.P14L	ABHD10_uc011bhq.2_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	14						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCCTGGGTACCTTGTCGGAGC	0.682												
AFAP1	60312	broad.mit.edu	37	4	7802222	7802222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:7802222G>A	uc011bwk.1	-	9	1486	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	AFAP1_uc003gkg.1_Missense_Mutation_p.H405Y	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	405	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCAGAGGATGTTTAGAATCC	0.547												
C4orf21	55345	broad.mit.edu	37	4	113510967	113510968	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:113510967_113510968delTT	uc003iau.3	-	10	3250_3251	c.3039_3040delAA	c.(3037-3042)tcaagafs	p.S1013fs	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Frame_Shift_Del_p.S1013fs	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1013										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTTCATCTCTTGAGTTCAAAG	0.391												
LRAT	9227	broad.mit.edu	37	4	155670163	155670163	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:155670163C>T	uc003iom.1	+	1	895	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	LRAT_uc003ion.1_Missense_Mutation_p.R190C	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	190					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GATAATTATTCGTGATCAGAG	0.373												
ANP32C	23520	broad.mit.edu	37	4	165118645	165118645	+	Silent	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:165118645T>A	uc011cjk.2	-	0	219	c.219A>T	c.(217-219)tcA>tcT	p.S73S	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	73										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCAGGCCCCCTGAGACTCTTA	0.403												
TRIML1	339976	broad.mit.edu	37	4	189068289	189068289	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:189068289G>T	uc003izm.1	+	5	1285	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	TRIML1_uc003izn.1_Missense_Mutation_p.W114C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	390	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACAGCCTCTGGGTCTCGTCAC	0.488												
CDH9	1007	broad.mit.edu	37	5	26902711	26902711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:26902711T>A	uc003jgs.1	-	6	1296	c.1127A>T	c.(1126-1128)gAt>gTt	p.D376V		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E375E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCATCTATATCTTCCACAGA	0.408												
LHFPL2	10184	broad.mit.edu	37	5	77805969	77805969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:77805969G>A	uc003kfo.3	-	3	744	c.68C>T	c.(67-69)gCc>gTc	p.A23V		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	23						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AATGAGCTCGGCAAAAGCCAC	0.617												
ZRSR1	6728	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:112227939T>C	uc021ycm.1	+	0	631	c.603T>C	c.(601-603)tcT>tcC	p.S201S	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;									p.S201S(2)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453												
CCDC112	153733	broad.mit.edu	37	5	114607281	114607281	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:114607281C>T	uc003kqz.2	-	6	1179	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CCDC112_uc003kqy.2_Missense_Mutation_p.E238K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	238										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGAAAATTTCCTCCCTTTTT	0.289												
ODZ2	57451	broad.mit.edu	37	5	167674863	167674863	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:167674863C>T	uc010jjd.3	+	26	6892	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W	ODZ2_uc003lzr.4_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.4_Missense_Mutation_p.R1671W|ODZ2_uc010jje.3_Missense_Mutation_p.R1562W	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGCGTAGGACGGCGGGCTTC	0.552												
OR10C1	442194	broad.mit.edu	37	6	29408233	29408233	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:29408233G>A	uc011dlp.2	+	0	518	c.441G>A	c.(439-441)gcG>gcA	p.A147A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S146L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCGGCGTGGGCCTGTG	0.622												
GRM4	2914	broad.mit.edu	37	6	34101001	34101001	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:34101001G>A	uc003oir.4	-	0	636	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GRM4_uc011dsn.2_Silent_p.N91N|GRM4_uc010jvh.3_Silent_p.N91N|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.N10N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	91					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTCCGGGTCGTTGTTGATGC	0.622												
DNAH8	1769	broad.mit.edu	37	6	38704936	38704936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:38704936A>G	uc021yzh.1	+	5	965	c.856A>G	c.(856-858)Aca>Gca	p.T286A	DNAH8_uc003ooe.2_Missense_Mutation_p.T69A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTCTTGCAACAAACAACTG	0.383												
AIM1	202	broad.mit.edu	37	6	106967934	106967934	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:106967934T>C	uc003prh.3	+	1	2539	c.1627T>C	c.(1627-1629)Tcc>Ccc	p.S543P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	543							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAGTGTCCATCCAGAGTCCT	0.527												
C6orf170	221322	broad.mit.edu	37	6	121642861	121642861	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:121642861T>C	uc003pyo.1	-	1	303	c.235A>G	c.(235-237)Aca>Gca	p.T79A	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	79					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CGATCAGATGTGCATTTTTCC	0.368												
FNDC1	84624	broad.mit.edu	37	6	159653416	159653416	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:159653416G>A	uc010kjv.3	+	10	2072	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	FNDC1_uc010kjw.1_Silent_p.A509A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667												
SLC22A2	6582	broad.mit.edu	37	6	160679423	160679423	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:160679423G>A	uc003qtf.3	-	0	541	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	SLC22A2_uc003qth.2_Missense_Mutation_p.R123W	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	123					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGCCGTCCCGGCAGGGGCCC	0.627												
HECW1	23072	broad.mit.edu	37	7	43519279	43519279	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:43519279G>A	uc003tid.1	+	16	3775	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1057					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAACGGTCGTCTTCCCAAT	0.542												
BAZ1B	9031	broad.mit.edu	37	7	72892641	72892641	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:72892641T>A	uc003tyc.3	-	6	1502	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	384	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTAGGAATGTGAAAGTTA	0.433												
PIK3CG	5294	broad.mit.edu	37	7	106524646	106524646	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:106524646G>C	uc003vdv.4	+	8	2892	c.2807G>C	c.(2806-2808)tGt>tCt	p.C936S	PIK3CG_uc003vdu.3_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.3_Missense_Mutation_p.C936S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	936	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.C936S(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGGCTACTGTGTGGCAACC	0.363												
IMPDH1	3614	broad.mit.edu	37	7	128038490	128038490	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:128038490G>A	uc011kol.1	-	6	903	c.797C>T	c.(796-798)gCg>gTg	p.A266V	IMPDH1_uc011kom.1_Missense_Mutation_p.A261V|IMPDH1_uc003vmt.2_Missense_Mutation_p.A241V|IMPDH1_uc003vmu.2_Missense_Mutation_p.A351V|IMPDH1_uc003vmx.2_Missense_Mutation_p.A274V|IMPDH1_uc003vmy.2_Missense_Mutation_p.A282V|IMPDH1_uc003vmw.2_Missense_Mutation_p.A341V|IMPDH1_uc011kon.1_Missense_Mutation_p.A318V|IMPDH1_uc003vmv.2_Missense_Mutation_p.A315V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	266					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCGACGCCCGCCTGGGTGAG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CLCN1	1180	broad.mit.edu	37	7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143029823C>T	uc003wcr.1	+	11	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	420					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P420P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTTGATGCCCCGCGAAGC	0.522												
OR2F2	135948	broad.mit.edu	37	7	143632969	143632969	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143632969T>A	uc011ktv.2	+	0	644	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTGGTTCTGTTGTCCTAC	0.517												
CNTNAP2	26047	broad.mit.edu	37	7	147914464	147914464	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:147914464G>T	uc003weu.2	+	18	3611	c.3095G>T	c.(3094-3096)aGa>aTa	p.R1032I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1032					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532										HNSCC(39;0.1)		
UBE3C	9690	broad.mit.edu	37	7	156976584	156976584	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:156976584A>T	uc010lqs.3	+	8	1316	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	UBE3C_uc003wnf.2_Missense_Mutation_p.E292V|UBE3C_uc003wng.2_Missense_Mutation_p.E335V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	335					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCCTCTCTGAGGAAGGGCTG	0.473												
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:27737142C>T	uc003xgj.3	-	7	1906	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_uc010luz.3_Missense_Mutation_p.R207H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642												
NRG1	3084	broad.mit.edu	37	8	31497984	31497984	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:31497984G>C	uc003xip.3	+	0	717	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCCTATCTGGTGAAGGTGCA	0.741												
SULF1	23213	broad.mit.edu	37	8	70515453	70515453	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:70515453A>T	uc003xyg.2	+	9	1649	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	SULF1_uc010lza.1_Missense_Mutation_p.D363V|SULF1_uc003xyd.2_Missense_Mutation_p.D363V|SULF1_uc003xye.2_Missense_Mutation_p.D363V|SULF1_uc003xyf.2_Missense_Mutation_p.D363V|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	363					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCAACATTGACTTGGCCCCC	0.537												
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:105001535G>A	uc003yls.3	+	14	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R816Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R755S(1)|p.G754R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)		
EPPK1	83481	broad.mit.edu	37	8	144947336	144947336	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:144947336G>A	uc003zaa.1	-	0	99	c.86C>T	c.(85-87)aCg>aTg	p.T29M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	29						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCCCAGCGTGGCTGCCAT	0.672												
C9orf66	157983	broad.mit.edu	37	9	214916	214916	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:214916G>A	uc003zge.4	-	0	978	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	161								p.R161C(2)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTCTGCGGCGCGCCAGGCCC	0.687												
SUSD1	64420	broad.mit.edu	37	9	114874102	114874102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:114874102G>A	uc010mui.3	-	7	1044	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.R335W|SUSD1_uc010muj.3_Missense_Mutation_p.R335W			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	335						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTCCAACCGTTGTCCTTTT	0.498												
LAMC3	10319	broad.mit.edu	37	9	133927946	133927946	+	Missense_Mutation	SNP	G	G	A	rs142796007	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:133927946G>A	uc004caa.1	+	9	1797	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	567	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCCCCCCGGGGACTCCCC	0.622											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NDUFB11	54539	broad.mit.edu	37	X	47001797	47001797	+	Silent	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:47001797T>C	uc004dhc.3	-	2	942	c.411A>G	c.(409-411)aaA>aaG	p.K137K	NDUFB11_uc004dhd.3_Silent_p.K127K|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTCTCGGTATTTCACAAGCC	0.552												
GATA1	2623	broad.mit.edu	37	X	48652346	48652346	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:48652346G>A	uc004dkq.4	+	5	1108	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	339					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGGTGGCTGGGGGCAGCGGTA	0.627			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome							
YIPF6	286451	broad.mit.edu	37	X	67742719	67742719	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:67742719G>T	uc004dwz.3	+	5	837	c.552G>T	c.(550-552)cgG>cgT	p.R184R	YIPF6_uc011mph.2_Silent_p.R141R	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	184						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TCATGGTTCGGCTTTTTGTGG	0.408												
CDX4	1046	broad.mit.edu	37	X	72667262	72667262	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:72667262A>G	uc011mqk.2	+	0	173	c.173A>G	c.(172-174)cAt>cGt	p.H58R		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGGTATCCTCATATGCCCAGC	0.632												
CPXCR1	53336	broad.mit.edu	37	X	88009244	88009244	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:88009244T>C	uc022bzq.1	+	0	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L	CPXCR1_uc004efd.4_Missense_Mutation_p.F277L|CPXCR1_uc004efc.4_Missense_Mutation_p.F277L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	277						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGAAATACTTTTGTCCCAT	0.299												
