Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
NPHP4	261734	broad.mit.edu	37	1	5947504	5947504	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:5947504G>A	uc001alq.1	-	18	2593	c.2327C>T	c.(2326-2328)CCG>CTG	p.P776L	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA|NPHP4_uc009vlu.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	776			P -> R (in NPHP4).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACAGCCGGCCGGCCTTG	0.637		NA											10	46					0	0	0	0
VPS13D	55187	broad.mit.edu	37	1	12446279	12446279	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:12446279C>T	uc001atv.2	+	60	11661	c.11520C>T	c.(11518-11520)TCC>TCT	p.S3840S	VPS13D_uc001atw.2_Silent_p.S3815S|VPS13D_uc001atx.2_Silent_p.S3027S|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3839					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGGTTGTCCTTAATTAATA	0.428		NA											8	143					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27088796	27088796	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:27088796A>C	uc001bmv.1	+	7	2778	c.2405A>C	c.(2404-2406)CAG>CCG	p.Q802P	ARID1A_uc001bmt.1_Missense_Mutation_p.Q802P|ARID1A_uc001bmu.1_Missense_Mutation_p.Q802P|ARID1A_uc001bmw.1_Missense_Mutation_p.Q419P	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	802					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			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		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)		CAGGGGGGTCAGTATGGCCCA	0.532		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								14	80					0	0	0	0
C1orf175	374977	broad.mit.edu	37	1	55118866	55118866	+	Silent	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:55118866C>A	uc010ooe.1	+	3	591	c.267C>A	c.(265-267)ATC>ATA	p.I89I	C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Silent_p.I89I|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.I89I|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	89						integral to membrane	binding				0						GCAGAGCTATCGCTCCAGCCT	0.557		NA											4	93					0.00909568	0.00972732	1	0
HFM1	164045	broad.mit.edu	37	1	91851392	91851392	+	Splice_Site	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:91851392C>G	uc001doa.3	-	5	595	c.495_splice	c.e5-1	p.R165_splice	HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Splice_Site_p.R165_splice	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein								ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATAATCTGCAAACAAA	0.328		NA											5	59					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109793507	109793507	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109793507G>T	uc001dxa.3	+	1	867	c.806G>T	c.(805-807)CGA>CTA	p.R269L		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	269	Cadherin 1.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATGCCCCGACGAAGTGCCCTG	0.592		NA											8	59					1.07e-07	1.22e-07	1	0
SORT1	6272	broad.mit.edu	37	1	109897024	109897024	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109897024G>C	uc001dxm.1	-	5	722	c.673C>G	c.(673-675)CAG>GAG	p.Q225E	SORT1_uc010ovi.1_Missense_Mutation_p.Q89E|SORT1_uc009wfb.2_Missense_Mutation_p.Q89E	NM_002959	NP_002950	Q99523	SORT_HUMAN	sortilin 1 preproprotein	225	Extracellular (Potential).				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGAATTCTGAGGGCTATAC	0.383		NA											5	71					0	0	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:145359169T>A	uc001end.3	+	74	9369	c.9334T>A	c.(9334-9336)TTG>ATG	p.L3112M	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3037											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCGTGTTGGCTTGGCTGTTGA	0.458		NA											8	724					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187542	152187542	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:152187542T>C	uc001ezt.1	-	3	6639	c.6563A>G	c.(6562-6564)CAT>CGT	p.H2188R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2188	24				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGGACCCATGTCGGCCGCG	0.647		NA											13	243					0	0	0	0
PRCC	5546	broad.mit.edu	37	1	156770249	156770249	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:156770249C>T	uc001fqa.2	+	7	1763	c.1473C>T	c.(1471-1473)TTC>TTT	p.F491F	PRCC_uc001fqb.2_Silent_p.F459F	NM_005973	NP_005964	Q92733	PRCC_HUMAN	papillary renal cell carcinoma	491					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	kidney(25)|central_nervous_system(2)	27	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AATATGGATTCTAGGGCTCTG	0.597		NA	T	TFE3	papillary renal 								11	83					0	0	0	0
ASTN1	460	broad.mit.edu	37	1	176993768	176993768	+	Silent	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:176993768A>T	uc001glc.2	-	6	1433	c.1221T>A	c.(1219-1221)CCT>CCA	p.P407P	ASTN1_uc001glb.1_Silent_p.P407P|ASTN1_uc001gld.1_Silent_p.P407P|ASTN1_uc009wwx.1_Silent_p.P407P|ASTN1_uc001gle.3_RNA	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	407					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TGACAACGAGAGGGCAGTTGA	0.537		NA											5	36					0	0	0	0
ETNK2	55224	broad.mit.edu	37	1	204115797	204115797	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:204115797G>A	uc001hao.3	-	3	941	c.614C>T	c.(613-615)ACG>ATG	p.T205M	ETNK2_uc010pqr.1_Missense_Mutation_p.T27M|ETNK2_uc001han.3_Missense_Mutation_p.T205M|ETNK2_uc010pqs.1_Intron|ETNK2_uc010pqt.1_Missense_Mutation_p.T27M	NM_018208	NP_060678	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	205							ATP binding|choline kinase activity|ethanolamine kinase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTCACAAGCGTGAAATAATT	0.502		NA											11	94					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336618	30336618	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:30336618C>T	uc001iux.2	-	1	183	c.124G>A	c.(124-126)GGC>AGC	p.G42S	KIAA1462_uc001iuy.2_Missense_Mutation_p.G42S|KIAA1462_uc001iuz.2_5'UTR|KIAA1462_uc009xle.1_Missense_Mutation_p.G42S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	42										ovary(4)	4						TTCTGCAGGCCCTGGCCTGCT	0.637		NA											7	47					0	0	0	0
ANK3	288	broad.mit.edu	37	10	61836161	61836161	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:61836161G>A	uc001jky.2	-	37	4670	c.4478C>T	c.(4477-4479)TCA>TTA	p.S1493L	ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	1493					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						TGGCTTGTATGAGTAAGTGGT	0.418		NA											8	36					0	0	0	0
TDRD1	56165	broad.mit.edu	37	10	115980379	115980379	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr10:115980379G>A	uc001lbg.1	+	19	2700	c.2547G>A	c.(2545-2547)CAG>CAA	p.Q849Q	TDRD1_uc001lbf.2_Silent_p.Q726Q|TDRD1_uc001lbh.1_Silent_p.Q840Q|TDRD1_uc001lbi.1_Silent_p.Q840Q|TDRD1_uc010qsc.1_Silent_p.Q453Q|TDRD1_uc001lbj.2_Silent_p.Q558Q	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	849					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAAGATTCCAGATGTGTGTTG	0.388		NA											4	78					0	0	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379925	379925	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:379925C>T	uc001lpb.2	+	16	2557	c.2548C>T	c.(2548-2550)CGC>TGC	p.R850C		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	beta	850	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			pancreas(1)	1		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCACGCGCGCACCGGGGA	0.687		NA											6	51					0	0	0	0
TRIM22	10346	broad.mit.edu	37	11	5730360	5730360	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:5730360C>T	uc001mbr.2	+	8	1256	c.979C>T	c.(979-981)CGC>TGC	p.R327C	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Missense_Mutation_p.R323C|TRIM22_uc010qzm.1_Missense_Mutation_p.R155C|TRIM22_uc009yeu.2_Missense_Mutation_p.R138C|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	tripartite motif-containing 22	327	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding				0		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAAAACTGTACGCACCTGCAC	0.413		NA											8	79					0	0	0	0
ELF5	2001	broad.mit.edu	37	11	34515223	34515223	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:34515223T>C	uc001mvo.1	-	3	418	c.188A>G	c.(187-189)TAC>TGC	p.Y63C	ELF5_uc001mvp.1_Missense_Mutation_p.Y53C|ELF5_uc009ykd.1_Intron|ELF5_uc001mvq.1_Missense_Mutation_p.Y53C	NM_198381	NP_938195	Q9UKW6	ELF5_HUMAN	E74-like factor 5 ESE-2a	63	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTTAGTCCAGTATTCAGGGTG	0.532		NA									OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	0	0
OR8I2	120586	broad.mit.edu	37	11	55861330	55861330	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:55861330C>A	uc010rix.1	+	1	547	c.547C>A	c.(547-549)CTT>ATT	p.L183I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	183	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					CACCACAGCTCTTTTAGCACT	0.438		NA											15	118					2.32e-05	2.6e-05	1	0
HEPHL1	341208	broad.mit.edu	37	11	93778850	93778850	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr11:93778850T>G	uc001pep.2	+	2	339	c.182T>G	c.(181-183)TTA>TGA	p.L61*		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	61	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTTGCAACCTTATTTCTCGAA	0.348		NA											3	16					0	0	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926400	21926400	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:21926400G>A	uc001rff.2	-	2	489	c.151C>T	c.(151-153)CGT>TGT	p.R51C		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	51	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)	CCTTGCTCACGGATGTTCTTA	0.602		NA									OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	73					0	0	0	0
LARP4	113251	broad.mit.edu	37	12	50822793	50822793	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:50822793A>G	uc001rwp.1	+	3	386	c.242A>G	c.(241-243)AAT>AGT	p.N81S	LARP4_uc001rwo.1_Missense_Mutation_p.N87S|LARP4_uc001rwq.1_Missense_Mutation_p.N81S|LARP4_uc001rwr.1_Missense_Mutation_p.N81S|LARP4_uc001rws.1_Missense_Mutation_p.N80S|LARP4_uc001rwm.2_Missense_Mutation_p.N81S|LARP4_uc001rwn.2_Missense_Mutation_p.N11S	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	c-Mpl binding protein isoform a	81							nucleotide binding|RNA binding			ovary(1)	1						ACCACAAGAAATACTACAGGC	0.333		NA											10	78					0	0	0	0
OSBPL8	114882	broad.mit.edu	37	12	76750470	76750470	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr12:76750470T>C	uc001sye.1	-	23	2953	c.2473A>G	c.(2473-2475)ATA>GTA	p.I825V	OSBPL8_uc001syf.1_Missense_Mutation_p.I783V|OSBPL8_uc001syg.1_Missense_Mutation_p.I783V	NM_020841	NP_065892	Q9BZF1	OSBL8_HUMAN	oxysterol-binding protein-like protein 8 isoform	825					lipid transport		lipid binding			ovary(1)	1						CCCAGTTCTATTCCTTTCTTT	0.294		NA											12	70					0	0	0	0
LCP1	3936	broad.mit.edu	37	13	46732708	46732708	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr13:46732708T>A	uc001vaz.3	-	4	433	c.307A>T	c.(307-309)ATC>TTC	p.I103F	LCP1_uc001vba.3_Missense_Mutation_p.I103F	NM_002298	NP_002289	P13796	PLSL_HUMAN	L-plastin	103					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			lung(4)|ovary(3)	7		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GTACCACCGATTGCACAAATC	0.423		NA	T	BCL6	NHL 								20	65					0	0	0	0
KIAA0391	9692	broad.mit.edu	37	14	35735973	35735973	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:35735973G>C	uc001wsy.1	+	6	1676	c.1316G>C	c.(1315-1317)CGA>CCA	p.R439P	KIAA0391_uc010tps.1_Missense_Mutation_p.R344P|KIAA0391_uc001wsz.1_Missense_Mutation_p.R423P|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.R423P|KIAA0391_uc001wtc.1_Missense_Mutation_p.R67P	NM_014672	NP_055487	O15091	MRRP3_HUMAN	mitochondrial RNase P protein 3 precursor	439					tRNA processing	mitochondrion					0	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CGGAATCTGCGACTGCTGGTC	0.478		NA											3	177					0	0	0	0
INSM2	84684	broad.mit.edu	37	14	36004166	36004166	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:36004166C>T	uc001wth.1	+	1	919	c.708C>T	c.(706-708)GTC>GTT	p.V236V		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		CATCCCCTGTCCTGGGCCTGA	0.662		NA											8	23					0	0	0	0
PSMC1	5700	broad.mit.edu	37	14	90730032	90730032	+	Silent	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr14:90730032G>C	uc001xyf.2	+	5	354	c.306G>C	c.(304-306)CTG>CTC	p.L102L	PSMC1_uc001xyg.2_Silent_p.L29L|PSMC1_uc001xyh.2_Silent_p.L29L|PSMC1_uc010twh.1_Silent_p.L29L	NM_002802	NP_002793	P62191	PRS4_HUMAN	proteasome 26S ATPase subunit 1	102					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding				0		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGGATGATCTGAGGGGGACCC	0.443		NA											9	71					0	0	0	0
MEIS2	4212	broad.mit.edu	37	15	37184422	37184422	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:37184422A>G	uc001zjr.2	-	12	2423	c.1386T>C	c.(1384-1386)TCT>TCC	p.S462S	MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Silent_p.S442S|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Silent_p.S455S|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Silent_p.S455S|MEIS2_uc001zjj.2_Silent_p.S158S|MEIS2_uc001zjk.2_Silent_p.S151S	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Meis homeobox 2 isoform c	462					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TGGGATCTACAGAATTTAACA	0.483		NA											46	300					0	0	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397319	51397319	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:51397319C>G	uc001zyy.2	-	1	155	c.55G>C	c.(55-57)GAG>CAG	p.E19Q		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein	19											0				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		CCCTTTGGCTCTGCCTCACAG	0.512		NA											5	119					0	0	0	0
SLTM	79811	broad.mit.edu	37	15	59186670	59186670	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:59186670G>A	uc002afp.2	-	10	1427	c.1339C>T	c.(1339-1341)CGC>TGC	p.R447C	SLTM_uc002afn.2_Missense_Mutation_p.R16C|SLTM_uc002afo.2_Missense_Mutation_p.R429C|SLTM_uc002afq.2_Missense_Mutation_p.R16C|SLTM_uc010bgd.2_Missense_Mutation_p.R16C	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	modulator of estrogen induced transcription	447	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AGCTCAGTGCGATGAAGATGT	0.413		NA											7	105					0	0	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78322394	78322394	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr15:78322394T>C	uc002bcy.3	-	4	802	c.802A>G	c.(802-804)ATA>GTA	p.I268V	TBC1D2B_uc010bla.2_Missense_Mutation_p.I268V	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B isoform a	268						intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3						TCCTGTACTATGGACTCCTCT	0.453		NA											9	71					0	0	0	0
LONP2	83752	broad.mit.edu	37	16	48303932	48303932	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:48303932C>G	uc002efi.1	+	7	1077	c.988C>G	c.(988-990)CTG>GTG	p.L330V	LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.L286V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	peroxisomal LON protease-like	330					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity				0						GACAGACCGCCTGGACATTAG	0.378		NA											8	42					0	0	0	0
ZNF276	92822	broad.mit.edu	37	16	89804234	89804234	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr16:89804234G>C	uc002fos.3	+	10	1592	c.1495G>C	c.(1495-1497)GAC>CAC	p.D499H	ZNF276_uc010ciq.2_Missense_Mutation_p.D285H|ZNF276_uc002fop.2_Missense_Mutation_p.D407H|ZNF276_uc002foq.3_Missense_Mutation_p.D424H|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.D285H|ZNF276_uc010cis.2_Missense_Mutation_p.D258H|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.D337H|ZNF276_uc010cit.1_Missense_Mutation_p.D258H|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	zinc finger protein 276 isoform a	499	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTATATCTGTGACGAATGTGG	0.557		NA											3	72					0	0	0	0
POLR2A	5430	broad.mit.edu	37	17	7416619	7416619	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7416619C>T	uc002ghf.3	+	29	5270	c.5036C>T	c.(5035-5037)TCA>TTA	p.S1679L		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1679	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].|13.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)				cccagctactcacccacttcc	0		NA											3	13					0	0	0	0
CHD3	1107	broad.mit.edu	37	17	7806800	7806800	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7806800C>G	uc002gje.2	+	23	3856	c.3706C>G	c.(3706-3708)CTA>GTA	p.L1236V	CHD3_uc002gjd.2_Missense_Mutation_p.L1295V|CHD3_uc002gjf.2_Missense_Mutation_p.L1236V|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1236					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(1)	1		Prostate(122;0.202)				CACTGAAGAGCTATTCAAGGA	0.542		NA											7	16					0	0	0	0
MYH10	4628	broad.mit.edu	37	17	8526560	8526560	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:8526560G>C	uc002gll.2	-	2	101	c.5C>G	c.(4-6)GCG>GGG	p.A2G	MYH10_uc002glm.2_Missense_Mutation_p.A2G|MYH10_uc010cnx.2_Missense_Mutation_p.A2G	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	2	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						AGTTCTCTGCGCCATTGTAAA	0.433		NA											4	50					0	0	0	0
ABCC3	8714	broad.mit.edu	37	17	48755277	48755277	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:48755277G>T	uc002isl.2	+	24	3631	c.3551G>T	c.(3550-3552)AGC>ATC	p.S1184I	ABCC3_uc002isn.2_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C, member 3	1184	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			skin(3)|central_nervous_system(1)	4			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AACCAGAGAAGCTGCTACCCC	0.567		NA											5	121					0.000602214	0.000662436	1	0
DGKE	8526	broad.mit.edu	37	17	54923105	54923105	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:54923105C>A	uc002iur.2	+	4	859	c.679C>A	c.(679-681)CGT>AGT	p.R227S	DGKE_uc002ius.1_Missense_Mutation_p.R227S	NM_003647	NP_003638	P52429	DGKE_HUMAN	diacylglycerol kinase epsilon	227	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(2)	2	Breast(9;3.59e-07)					GGCCAACTCTCGTAGTGGAAC	0.363		NA											3	71					0.00909568	0.00972732	1	0
EVI5L	115704	broad.mit.edu	37	19	7914195	7914195	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:7914195C>T	uc002min.2	+	5	760	c.606C>T	c.(604-606)ATC>ATT	p.I202I	EVI5L_uc010xjz.1_Silent_p.I202I|EVI5L_uc002mio.1_5'Flank	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	202	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1						GCGCCTTCATCGTGGGCCTGC	0.647		NA											4	46					0	0	0	0
CACNA1A	773	broad.mit.edu	37	19	13423556	13423556	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:13423556T>C	uc010dze.2	-	12	1834	c.1598A>G	c.(1597-1599)GAA>GGA	p.E533G	CACNA1A_uc010dzc.2_Missense_Mutation_p.E58G|CACNA1A_uc002mwy.3_Missense_Mutation_p.E532G|CACNA1A_uc010xne.1_Missense_Mutation_p.E58G	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	533	Helical; Name=S2 of repeat II; (Potential).|II.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TATAAACATTTCGGACATAAA	0.458		NA											3	48					0	0	0	0
KIRREL2	84063	broad.mit.edu	37	19	36353394	36353394	+	Splice_Site	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:36353394G>T	uc002ocb.3	+	12	1723	c.1511_splice	c.e12-1	p.D504_splice	KIRREL2_uc002obz.3_Splice_Site_p.D504_splice|KIRREL2_uc002oca.3_Splice_Site_p.D454_splice|KIRREL2_uc002occ.3_Splice_Site_p.D451_splice|KIRREL2_uc002ocd.3_Intron	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	kin of IRRE-like 2 isoform c						cell adhesion	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|skin(1)	3	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTCCCTGCAGACTTGCTGCC	0.617		NA											20	136					3.62e-10	4.23e-10	1	0
LAIR1	3903	broad.mit.edu	37	19	54867583	54867583	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:54867583C>T	uc002qfk.1	-	9	1007	c.697G>A	c.(697-699)GAC>AAC	p.D233N	LAIR1_uc002qfl.1_Missense_Mutation_p.D216N|LAIR1_uc002qfm.1_Missense_Mutation_p.D232N|LAIR1_uc002qfn.1_Missense_Mutation_p.D215N|LAIR1_uc010yex.1_Missense_Mutation_p.D226N|LAIR1_uc002qfo.2_Missense_Mutation_p.D215N	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	233	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GTCTCTCTGTCCTTCTCAGGA	0.368		NA											20	100					0	0	0	0
LILRB1	10859	broad.mit.edu	37	19	55143590	55143590	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr19:55143590G>T	uc002qgj.2	+	6	903	c.563G>T	c.(562-564)AGC>ATC	p.S188I	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.S188I|LILRB1_uc002qgk.2_Missense_Mutation_p.S188I|LILRB1_uc002qgm.2_Missense_Mutation_p.S188I|LILRB1_uc010erq.2_Missense_Mutation_p.S188I|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	188	Ig-like C2-type 2.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)		GGCCCCGTGAGCCCGAGTCGC	0.587		NA								HNSCC(37;0.09)			22	159					3.6e-14	4.24e-14	1	0
C2orf89	129293	broad.mit.edu	37	2	85051178	85051178	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:85051178C>T	uc010ysl.1	-	6	1322	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	C2orf89_uc002sou.3_Silent_p.T362T	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	hypothetical protein LOC129293 precursor	411	Extracellular (Potential).					integral to membrane				ovary(1)	1						CCTCACTGGGCGTGTCGGCAC	0.642		NA											6	25					0	0	0	0
POLR1A	25885	broad.mit.edu	37	2	86258685	86258685	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:86258685C>T	uc002sqs.2	-	30	4725	c.4346G>A	c.(4345-4347)CGA>CAA	p.R1449Q	POLR1A_uc010ytb.1_Missense_Mutation_p.R815Q	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	1449					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GTGGGGATTTCGTtcctcctg	0.413		NA											12	78					0	0	0	0
IL1R2	7850	broad.mit.edu	37	2	102642600	102642600	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:102642600C>T	uc002tbm.2	+	8	1144	c.915C>T	c.(913-915)TAC>TAT	p.Y305Y	IL1R2_uc002tbn.2_Silent_p.Y305Y	NM_004633	NP_004624	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II precursor	305	Extracellular (Potential).|Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			ovary(1)|breast(1)	2					Anakinra(DB00026)	ATGAGAACTACATTGAAGTGC	0.338		NA											7	64					0	0	0	0
NOP58	51602	broad.mit.edu	37	2	203168128	203168128	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203168128A>G	uc002uzb.2	+	15	1709	c.1559A>G	c.(1558-1560)AAA>AGA	p.K520R		NM_015934	NP_057018	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein homolog	520	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0						aaaaagaagaaaaagaaaaaa	0.328		NA											10	57					0	0	0	0
WDR12	55759	broad.mit.edu	37	2	203764342	203764342	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:203764342C>G	uc002uzl.2	-	4	1000	c.250G>C	c.(250-252)GAA>CAA	p.E84Q	WDR12_uc010ftt.2_Missense_Mutation_p.E84Q	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	84					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						TCCACGTATTCTATTTCCACA	0.393		NA											4	72					0	0	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949576	235949576	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:235949576G>A	uc002vvp.2	+	4	556	c.163G>A	c.(163-165)GGA>AGA	p.G55R	SH3BP4_uc010fym.2_Missense_Mutation_p.G55R|SH3BP4_uc002vvq.2_Missense_Mutation_p.G55R	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	55	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CACACCTTTCGGAAATGCAAA	0.532		NA											31	157					0	0	0	0
AGAP1	116987	broad.mit.edu	37	2	236659046	236659046	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:236659046G>A	uc002vvs.2	+	6	1182	c.587G>A	c.(586-588)AGG>AAG	p.R196K	AGAP1_uc002vvt.2_Missense_Mutation_p.R196K	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	196	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GCCAGGGCGAGGAAGCTCTCC	0.527		NA											34	136					0	0	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:23967157A>G	uc002wts.2	-	2	225	c.92T>C	c.(91-93)ATG>ACG	p.M31T	GGTLC1_uc002wtu.2_Missense_Mutation_p.M31T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity			ovary(1)	1						GTCATCCGGCATGTAGAACTC	0.622		NA											4	68					0	0	0	0
KCNK15	60598	broad.mit.edu	37	20	43378790	43378790	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:43378790G>C	uc002xmr.2	+	2	368	c.304G>C	c.(304-306)GGT>CGT	p.G102R		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	102						integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CGCCGCGCCGGGTACGGACTC	0.682		NA											3	18					0	0	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353758	45353758	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr20:45353758T>C	uc002xsl.2	+	2	180	c.83T>C	c.(82-84)GTC>GCC	p.V28A		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	28	Helical; Name=1; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				GAACTGGCAGTCATATCAGGT	0.577		NA											9	96					0	0	0	0
TSSK2	23617	broad.mit.edu	37	22	19119322	19119322	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:19119322T>C	uc002zow.2	+	1	1002	c.410T>C	c.(409-411)CTC>CCC	p.L137P	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	137	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					CACCGGGACCTCAAGTGCGAG	0.592		NA											3	85					0	0	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41265050	41265050	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr22:41265050G>C	uc003azh.2	+	2	204	c.112G>C	c.(112-114)GAA>CAA	p.E38Q	XPNPEP3_uc011aox.1_Missense_Mutation_p.E38Q|XPNPEP3_uc003azi.2_5'UTR|XPNPEP3_uc011aoy.1_RNA|XPNPEP3_uc010gyh.1_RNA	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3,	38					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity				0						GCCTGTCCCAGAAAGGAGGAT	0.458		NA											7	134					0	0	0	0
DNAH1	25981	broad.mit.edu	37	3	52380551	52380551	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:52380551C>T	uc011bef.1	+	11	1981	c.1720C>T	c.(1720-1722)CGC>TGC	p.R574C	DNAH1_uc003ddt.1_Missense_Mutation_p.R574C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	574	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCAGCCTGCGCGACATGAG	0.567		NA											4	17					0	0	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806749	97806749	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:97806749G>A	uc011bgs.1	+	1	733	c.733G>A	c.(733-735)GCC>ACC	p.A245T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CACATGCGGCGCCCATCTGCT	0.423		NA											7	56					0	0	0	0
NR1I2	8856	broad.mit.edu	37	3	119534276	119534276	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:119534276C>G	uc003edj.2	+	7	2883	c.1044C>G	c.(1042-1044)CTC>CTG	p.L348L	NR1I2_uc003edi.2_Silent_p.L311L|NR1I2_uc003edk.2_Silent_p.L387L|NR1I2_uc003edl.2_Silent_p.L236L	NM_003889	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	348	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(2)	2				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CCATCTCCCTCTTCTCCCCAG	0.567		NA											8	76					0	0	0	0
PARP14	54625	broad.mit.edu	37	3	122411306	122411306	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:122411306A>G	uc003efq.3	+	4	573	c.514A>G	c.(514-516)ATA>GTA	p.I172V	PARP14_uc010hrk.2_5'Flank	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		AGTGGAGAACATAAGTGGCCT	0.363		NA											14	65					0	0	0	0
TOPBP1	11073	broad.mit.edu	37	3	133327412	133327412	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:133327412C>G	uc003eps.2	-	27	4524	c.4392G>C	c.(4390-4392)TTG>TTC	p.L1464F		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1464	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						ATTCTGTTCTCAAGCAGTACA	0.393		NA						Other_conserved_DNA_damage_response_genes					11	129					0	0	0	0
SHOX2	6474	broad.mit.edu	37	3	157820662	157820662	+	Silent	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:157820662C>G	uc003fbr.2	-	2	499	c.360G>C	c.(358-360)CTG>CTC	p.L120L	SHOX2_uc003fbs.2_Silent_p.L144L|SHOX2_uc010hvw.2_Silent_p.L120L	NM_006884	NP_006875	O60902	SHOX2_HUMAN	short stature homeobox 2 isoform a	120					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGATCTTTCAGCTCCGGGG	0.483		NA											6	73					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178928073	178928073	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:178928073G>A	uc003fjk.2	+	8	1508	c.1351G>A	c.(1351-1353)GGA>AGA	p.G451R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	451	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G451_L456>V(1)|p.P449_L455del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGTACCTCATGGATTAGAAGA	0.348		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	89					0	0	0	0
ACAP2	23527	broad.mit.edu	37	3	195041540	195041540	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195041540A>C	uc003fun.3	-	10	988	c.747T>G	c.(745-747)GAT>GAG	p.D249E		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	centaurin, beta 2	249					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2						CACTGGAGAAATCCTACACAA	0.219		NA											3	54					0	0	0	0
MUC4	4585	broad.mit.edu	37	3	195517410	195517410	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr3:195517410A>G	uc011bto.1	-	2	1501	c.1041T>C	c.(1039-1041)GTT>GTC	p.V347V	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.V229V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	352					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGATGTTGTAACCGGTGTGA	0.473		NA											10	304					0	0	0	0
MSX1	4487	broad.mit.edu	37	4	4864702	4864702	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:4864702G>A	uc003gif.2	+	2	979	c.744G>A	c.(742-744)CCG>CCA	p.P248P		NM_002448	NP_002439	P28360	MSX1_HUMAN	msh homeobox 1	242					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGCTGCCACCGGCTGCCTTCG	0.672		NA											4	26					0	0	0	0
FGF2	2247	broad.mit.edu	37	4	123797546	123797546	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:123797546G>A	uc003iev.1	+	2	716	c.648G>A	c.(646-648)CTG>CTA	p.L216L		NM_002006	NP_001997	P09038	FGF2_HUMAN	fibroblast growth factor 2	216					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|lung(1)|central_nervous_system(1)	3					Pentosan Polysulfate(DB00686)	ACCGTTACCTGGCTATGAAGG	0.373		NA											5	53					0	0	0	0
TLR3	7098	broad.mit.edu	37	4	187004157	187004157	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr4:187004157C>T	uc003iyq.2	+	4	1418	c.1317C>T	c.(1315-1317)GGC>GGT	p.G439G	TLR3_uc011ckz.1_Silent_p.G162G|TLR3_uc003iyr.2_Silent_p.G162G	NM_003265	NP_003256	O15455	TLR3_HUMAN	toll-like receptor 3 precursor	439	LRR 16.|Lumenal (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			ovary(2)|prostate(1)|lung(1)|breast(1)	5		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGACCTGGGCCTTAATGAAA	0.408		NA											12	42					0	0	0	0
FAM153A	285596	broad.mit.edu	37	5	177163583	177163583	+	Nonsense_Mutation	SNP	C	C	A	rs143733594		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr5:177163583C>A	uc010jkp.1	-	13	851	c.430G>T	c.(430-432)GAA>TAA	p.E144*	FAM153A_uc011dgd.1_Intron|FAM153A_uc003mib.1_RNA|FAM153A_uc003mic.2_Nonsense_Mutation_p.E144*	NM_173663	NP_775934	Q9UHL3	F153A_HUMAN	hypothetical protein LOC285596	144								p.E144K(1)		skin(1)	1	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458		NA											4	71					0.00909568	0.00972732	1	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726721	25726721	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:25726721C>T	uc003nfc.2	-	1	70	c.35G>A	c.(34-36)CGC>CAC	p.R12H	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	12					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AGACTTGGCGCGTGCTTTTCC	0.527		NA											11	62					0	0	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027283	26027283	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:26027283C>T	uc003nfr.2	-	1	198	c.198G>A	c.(196-198)GTG>GTA	p.V66V		NM_003544	NP_003535	P62805	H4_HUMAN	histone cluster 1, H4b	66					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2						CGTCCCGGATCACGTTCTCCA	0.572		NA									OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	70					0	0	0	0
HTR1B	3351	broad.mit.edu	37	6	78172633	78172633	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:78172633G>A	uc003pil.1	-	1	488	c.488C>T	c.(487-489)CCC>CTC	p.P163L		NM_000863	NP_000854	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B	163	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity				0		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CGCCCTCTTGGGAGTCCTTTT	0.602		NA											4	47					0	0	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90578310	90578310	+	Silent	SNP	A	A	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:90578310A>T	uc003pnr.2	+	8	5497	c.5301A>T	c.(5299-5301)ATA>ATT	p.I1767I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.I1767I|CASP8AP2_uc011dzz.1_Silent_p.I1767I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	1767	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTGGGGTGATACAGGTAGATG	0.403		NA											6	34					0	0	0	0
EPB41L2	2037	broad.mit.edu	37	6	131206332	131206332	+	Silent	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131206332A>G	uc003qch.2	-	12	1919	c.1737T>C	c.(1735-1737)CCT>CCC	p.P579P	EPB41L2_uc003qce.1_5'Flank|EPB41L2_uc003qcf.1_5'Flank|EPB41L2_uc003qcg.1_Silent_p.P579P|EPB41L2_uc011eby.1_Silent_p.P579P|EPB41L2_uc003qci.2_Silent_p.P579P|EPB41L2_uc010kfk.2_Silent_p.P579P|EPB41L2_uc010kfl.1_Silent_p.P579P	NM_001431	NP_001422	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	579	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			central_nervous_system(1)|skin(1)	2	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGACAAGTCCAGGTCCATAGG	0.493		NA									OREG0017660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	153					0	0	0	0
MED23	9439	broad.mit.edu	37	6	131915244	131915244	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:131915244A>G	uc003qcs.1	-	23	3401	c.3227T>C	c.(3226-3228)GTC>GCC	p.V1076A	MED23_uc003qcq.2_Missense_Mutation_p.V1082A|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.V717A	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1076					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GATATTATCGACTAGTCTGCC	0.318		NA											4	47					0	0	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576730	138576730	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:138576730A>G	uc003qhu.2	+	10	928	c.928A>G	c.(928-930)ACT>GCT	p.T310A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	310					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCTCCTGCACTGCGCCGGC	0.642		NA											9	77					0	0	0	0
STX11	8676	broad.mit.edu	37	6	144508521	144508521	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:144508521G>A	uc003qks.3	+	2	949	c.757G>A	c.(757-759)GTC>ATC	p.V253I		NM_003764	NP_003755	O75558	STX11_HUMAN	syntaxin 11	253	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		ACAAAAGACGGTCGACTACAC	0.627		NA							Familial_Hemophagocytic_Lymphohistiocytosis				4	30					0	0	0	0
ACAT2	39	broad.mit.edu	37	6	160199708	160199708	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr6:160199708G>A	uc010kjy.2	+	9	1172	c.1041G>A	c.(1039-1041)GGG>GGA	p.G347G	ACAT2_uc011efw.1_Silent_p.G376G|TCP1_uc003qsr.2_3'UTR|TCP1_uc003qss.2_3'UTR|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_3'UTR	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	acetyl-Coenzyme A acetyltransferase 2	347						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAGGAGGGGCTATAGCCT	0.443		NA											16	109					0	0	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378675	31378675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:31378675C>A	uc003tch.2	-	2	561	c.208G>T	c.(208-210)GAA>TAA	p.E70*		NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	neurogenic differentiation 6	70					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)	2						AACCCAttttcatcttcctct	0.358		NA											24	169					5.35e-11	6.28e-11	1	0
DBNL	28988	broad.mit.edu	37	7	44100510	44100510	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:44100510G>C	uc003tjp.3	+	13	1386	c.1288G>C	c.(1288-1290)GAG>CAG	p.E430Q	DBNL_uc003tjo.3_Missense_Mutation_p.E431Q|DBNL_uc003tjr.3_Missense_Mutation_p.E303Q|DBNL_uc003tjq.3_Missense_Mutation_p.E439Q|DBNL_uc011kbm.1_Missense_Mutation_p.E406Q|DBNL_uc011kbn.1_Missense_Mutation_p.E327Q|DBNL_uc011kbo.1_Missense_Mutation_p.E331Q|DBNL_uc011kbp.1_Missense_Mutation_p.E382Q|DBNL_uc011kbq.1_Missense_Mutation_p.E355Q|DBNL_uc011kbr.1_Missense_Mutation_p.E379Q|DBNL_uc011kbs.1_Missense_Mutation_p.E335Q	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	430	SH3.			E -> D (in Ref. 6; CAG33448).	activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1						GGAGCTCATTGAGTGAGGCTG	0.572		NA											3	21					0	0	0	0
GRB10	2887	broad.mit.edu	37	7	50674050	50674050	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:50674050G>A	uc003tpi.2	-	11	1287	c.1256C>T	c.(1255-1257)CCG>CTG	p.P419L	GRB10_uc003tph.3_Missense_Mutation_p.P361L|GRB10_uc003tpj.2_Missense_Mutation_p.P373L|GRB10_uc003tpk.2_Missense_Mutation_p.P419L|GRB10_uc010kzb.2_Missense_Mutation_p.P361L|GRB10_uc003tpl.2_Missense_Mutation_p.P413L|GRB10_uc003tpm.2_Missense_Mutation_p.P361L|GRB10_uc003tpn.2_Missense_Mutation_p.P361L	NM_005311	NP_005302	Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10 isoform	419					insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity			lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6	Glioma(55;0.08)|all_neural(89;0.245)					CGTCGAGAACGGGGACAGCAA	0.527		NA							Russell-Silver_syndrome				17	97					0	0	0	0
ABCB1	5243	broad.mit.edu	37	7	87229508	87229508	+	Splice_Site	SNP	T	T	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:87229508T>C	uc003uiz.1	-	3	413	c.-5_splice	c.e3-1		ABCB1_uc011khc.1_Splice_Site|ABCB1_uc003uja.1_Intron|ABCB1_uc010lei.1_Intron	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1						G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CATTCCGACCTGAAGAGAAAC	0.468		NA											3	22					0	0	0	0
DOCK4	9732	broad.mit.edu	37	7	111368416	111368416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:111368416G>A	uc003vfx.2	-	52	6084	c.5815C>T	c.(5815-5817)CGA>TGA	p.R1939*	DOCK4_uc011kml.1_Nonsense_Mutation_p.R820*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.R808*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.R1351*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.R1984*|DOCK4_uc003vfv.2_Nonsense_Mutation_p.R252*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1939	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TGGCTGGATCGCGCTGCCAGA	0.692		NA											6	38					0	0	0	0
FEZF1	389549	broad.mit.edu	37	7	121942271	121942271	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr7:121942271G>A	uc003vkd.2	-	4	1282	c.1208C>T	c.(1207-1209)CCC>CTC	p.P403L	FEZF1_uc003vkc.2_Missense_Mutation_p.P353L|uc010lko.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	403	C2H2-type 6.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						GCCGCACGTGGGGCAGGTGAA	0.562		NA											20	112					0	0	0	0
PXDNL	137902	broad.mit.edu	37	8	52322037	52322037	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:52322037G>T	uc003xqu.3	-	17	2248	c.2147C>A	c.(2146-2148)CCA>CAA	p.P716Q	PXDNL_uc003xqt.3_RNA	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	716					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCAGTTTGGCAGAGGCCT	0.622		NA											12	27					7.04e-09	8.09e-09	1	0
GRHL2	79977	broad.mit.edu	37	8	102589743	102589743	+	Silent	SNP	C	C	T			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:102589743C>T	uc010mbu.2	+	7	1329	c.999C>T	c.(997-999)GAC>GAT	p.D333D		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	333						cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGTCCTTGACATTGGTAAGT	0.483		NA											7	83					0	0	0	0
ZHX1	11244	broad.mit.edu	37	8	124266308	124266308	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr8:124266308C>G	uc003yqe.2	-	3	2309	c.1879G>C	c.(1879-1881)GAA>CAA	p.E627Q	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.E627Q|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.E627Q	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	627	Homeobox 3.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTCTCTTCCTTTAAAGCT	0.383		NA											3	61					0	0	0	0
IFNA4	3441	broad.mit.edu	37	9	21187444	21187444	+	Silent	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:21187444G>A	uc003zon.2	-	1	155	c.87C>T	c.(85-87)ACC>ACT	p.T29T		NM_021068	NP_066546	P05014	IFNA4_HUMAN	interferon, alpha 4 precursor	29					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGCTGTGGGTCTGAGGCA	0.512		NA											5	85					0	0	0	0
ACO1	48	broad.mit.edu	37	9	32448924	32448924	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32448924G>C	uc003zqw.3	+	20	2556	c.2401G>C	c.(2401-2403)GAG>CAG	p.E801Q	ACO1_uc003zqx.3_Missense_Mutation_p.E801Q|ACO1_uc003zqy.3_RNA	NM_002197	NP_002188	P21399	ACOC_HUMAN	aconitase 1	801					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding				0			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGAGAGCTACGAGCGCATTCA	0.488		NA											4	61					0	0	0	0
TAF1L	138474	broad.mit.edu	37	9	32634244	32634244	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:32634244G>C	uc003zrg.1	-	1	1424	c.1334C>G	c.(1333-1335)ACA>AGA	p.T445R	uc003zrh.1_RNA	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	445					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTGAGGTTTTGTCCCTTTGTG	0.483		NA											11	180					0	0	0	0
HIATL1	84641	broad.mit.edu	37	9	97218593	97218593	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:97218593C>G	uc004aur.2	+	10	1369	c.1100C>G	c.(1099-1101)TCT>TGT	p.S367C	HIATL1_uc011luh.1_Intron	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	367	Extracellular (Potential).			S -> T (in Ref. 3; BAB55274).	transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GCCCTCGTCTCTCGGAATGCA	0.577		NA											4	80					0	0	0	0
ZFP37	7539	broad.mit.edu	37	9	115818942	115818942	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:115818942A>C	uc004bgm.1	-	1	55	c.27T>G	c.(25-27)ATT>ATG	p.I9M	ZFP37_uc011lwz.1_Missense_Mutation_p.I9M|ZFP37_uc011lxa.1_Missense_Mutation_p.I9M	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	9						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GCTTTGTCAGAATCTGGACGC	0.682		NA											9	63					0	0	0	0
BRD3	8019	broad.mit.edu	37	9	136917540	136917540	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr9:136917540G>A	uc004cew.2	-	3	427	c.239C>T	c.(238-240)CCA>CTA	p.P80L	BRD3_uc004cex.2_Missense_Mutation_p.P80L	NM_007371	NP_031397	Q15059	BRD3_HUMAN	bromodomain containing protein 3	80	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	stomach(4)|midline_organs(3)|kidney(1)	8				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CATATCCATTGGGTTTTTAAT	0.333		NA	T	NUT|C15orf55	lethal midline carcinoma of young people								5	66					0	0	0	0
CELSR2	1952	broad.mit.edu	37	1	109794913	109794915	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr1:109794913_109794915delGAT	uc001dxa.3	+	1	2273_2275	c.2212_2214delGAT	c.(2212-2214)GATdel	p.D738del		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	738	Cadherin 6.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGCGCCACGGATGAGGACACAG	0.596		NA											9	54	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7576868	7576886	+	Frame_Shift_Del	DEL	TTCTCCATCCAGTGGTTTC	TTCTCCATCCAGTGGTTTC	-	rs121912659		TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr17:7576868_7576886delTTCTCCATCCAGTGGTTTC	uc002gim.2	-	9	1154_1172	c.960_978delGAAACCACTGGATGGAGAA	c.(958-978)AAGAAACCACTGGATGGAGAAfs	p.K320fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.K320fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.K188fs|TP53_uc010cng.1_Frame_Shift_Del_p.K188fs|TP53_uc002gii.1_Frame_Shift_Del_p.K188fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K320fs|TP53_uc010cni.1_Frame_Shift_Del_p.K320fs|TP53_uc002gij.2_Frame_Shift_Del_p.K320fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	320_326	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		E -> G (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.E326*(4)|p.K321fs*24(4)|p.K320N(3)|p.D324E(2)|p.K320fs*26(2)|p.K320*(2)|p.P322L(2)|p.P322R(2)|p.K321*(2)|p.S315fs*22(1)|p.L323fs*22(1)|p.K321K(1)|p.P318fs*21(1)|p.K320fs*25(1)|p.P322fs*23(1)|p.Y327fs*10(1)|p.L323V(1)|p.L323R(1)|p.?(1)|p.L323P(1)|p.D324fs*21(1)|p.G325fs*23(1)|p.L308fs*15(1)|p.L323G(1)|p.L323M(1)|p.K320K(1)|p.G325A(1)|p.D324D(1)|p.G325E(1)|p.D324S(1)|p.G325V(1)|p.K320fs*18(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGTGAAATATTCTCCATCCAGTGGTTTCTTCTTTGGCT	0.452		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	86	---	---	---	---	NA	NA	NA	NA
TTN	7273	broad.mit.edu	37	2	179585124	179585128	+	Frame_Shift_Del	DEL	CAGAG	CAGAG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chr2:179585124_179585128delCAGAG	uc010zfg.1	-	77	19853_19857	c.19629_19633delCTCTG	c.(19627-19635)TGCTCTGTCfs	p.C6543fs	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.C3204fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7470_7472							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAACTTGACAGAGCAAGAACACG	0.405		NA											14	164	---	---	---	---	NA	NA	NA	NA
GPM6B	2824	broad.mit.edu	37	X	13801551	13801553	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-DQ-5630-01A-01D-1870-08	TCGA-DQ-5630-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5aa7ff44-d4ff-4163-81db-9f09bec8d5b0	febb95f7-3b98-42ae-896c-3fa1f04ef94d	g.chrX:13801551_13801553delGTG	uc004cvz.2	-	3	627_629	c.336_338delCAC	c.(334-339)ACCACA>ACA	p.112_113TT>T	GPM6B_uc004cvx.2_In_Frame_Del_p.93_94TT>T|GPM6B_uc011min.1_In_Frame_Del_p.26_27TT>T|GPM6B_uc004cwa.2_In_Frame_Del_p.93_94TT>T|GPM6B_uc004cvw.2_In_Frame_Del_p.152_153TT>T|GPM6B_uc011mim.1_In_Frame_Del_p.126_127TT>T|GPM6B_uc004cvy.2_In_Frame_Del_p.152_153TT>T	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	112_113					cell differentiation|nervous system development	integral to membrane					0						CACTGCACTTGTGGTGTAAAAGC	0.424		NA											22	78	---	---	---	---	NA	NA	NA	NA